Obstetric imaging 9781455733576, 1455733571

Table of contents :
Front cover
ExCon page
Obstetric Imaging
Copyright page
Dedication
Contributors
Foreword
Preface
Table of Contents
Video Contents
Part 1 Atlas of Selected Normal Images
Chapter 1 Atlas of Selected Normal Images
Part 2 Thorax
Chapter 2 Congenital Cystic Adenomatoid Malformation of the Lung
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Invasive Fetal Therapy
Medical Therapy
Postnatal
▶ Suggested Reading
References
Chapter 3 Extralobar Bronchopulmonary Sequestration
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 4 Hydrothorax
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Readings
References
Chapter 5 Scimitar Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation and Prognosis
Diagnosis
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 6 Thymus
Introduction
Normal Anatomy
General Anatomic Descriptions
Ultrasound
Detailed Description of Specific Areas
Normal Variants
Differential Considerations
Pertinent Imaging Considerations
▶ Suggested Reading
References
Chapter 7 Other Thoracic Tumors and Masses
Introduction
Bronchogenic Cyst
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Lymphangioma
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Part 3 Abdomen
Section One Kidney
Chapter 8 Abnormal Kidney Location
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 9 Abnormal Kidney Size
Introduction
Normal Anatomy
General Anatomic Descriptions
Detailed Description of Specific Areas
Normal Variants
Differential Considerations
Pertinent Imaging Considerations
▶ Suggested Reading
References
Chapter 10 Bilateral Renal Agenesis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
▶ Suggested Reading
References
Chapter 11 Unilateral Renal Agenesis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 12 Renal Pelvis Dilatation
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 13 Duplicated Collecting System
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 14 Posterior Urethral Valves
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Vesicoamniotic Shunt Placement
Fetal Cystoscopy
Postnatal
▶ Suggested Reading
References
Chapter 15 Multicystic Dysplastic Kidney
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 16 Autosomal Recessive (Infantile) Polycystic Kidney Disease
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Section Three Other
Chapter 18 Ambiguous Genitalia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 19 Cloacal Abnormalities
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 20 Gastroschisis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 21 Omphalocele
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 22 Echogenic Bowel
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Bleeding
Aneuploidy
Cystic Fibrosis
Growth Restriction
Digestive Tract Malformations
Prenatal Infection
Unknown
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 23 Intrahepatic Calcifications
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Two Adrenals
Chapter 17 Fetal Adrenal Abnormalities
Introduction
Neuroblastoma
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Adrenal Hemorrhage
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Congenital Adrenal Hyperplasia
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Adrenal Neuroblastoma and Hemorrhage
Congenital Adrenal Hyperplasia
Postnatal
Adrenal Neuroblastoma
Adrenal Hemorrhage
Congenital Adrenal Hyperplasia
▶ Suggested Reading
References
Part 4 Gastrointestinal
Chapter 24 Abdominal Cysts
Introduction
Ovarian Cysts
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Enteric Duplication Cysts
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Mesenteric Cysts/Mesenteric Cystic Lymphangioma
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Urachal Cysts
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Hydrocolpos and Hydrometrocolpos
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Umbilical Vein Varix
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 25 Biliary Anomalies
Introduction
Biliary Atresia
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Choledochal Cysts
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Gallstones
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options: Biliary Atresia
Prenatal
Postnatal
Synopsis of Treatment Options: Choledochal Cyst
Prenatal
Postnatal
Synopsis of Treatment Options: Gallstones
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 26 Intestinal Obstruction
Introduction
Esophageal Obstruction
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Gastric Obstruction
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Duodenal Obstruction
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Jejunal Obstruction
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Imperforate Anus
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Hirschsprung Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Volvulus
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Synopsis of Treatment Options
Echogenic Bowel
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Meconium Ileus
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
▶ Suggested Reading
References
Chapter 27 Congenital Diaphragmatic Hernia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 28 Hepatic Anomalies
Introduction
Hepatic Tumors, Calcifications, and Cysts
Hemangioma
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Mesenchymal Hamartoma
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Hepatoblastoma
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Hepatic Calcifications
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Hepatic Cysts
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Hemangioma
Mesenchymal Hamartoma
Hepatoblastoma
Hepatic Calcifications
Hepatic Cysts
Imaging Technique and Findings
Ultrasound
hemangioma
mesenchymal hamartoma
hepatoblastoma
hepatic calcifications
hepatic cysts
Magnetic Resonance Imaging
Hepatomegaly
Hepatomegaly and Fetal Infections
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Hepatomegaly in Metabolic or Genetic Diseases
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Hepatomegaly in Hematologic Diseases
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Fetal Infections
Metabolic or Genetic Diseases
Hematologic Diseases
Imaging Technique and Findings
Ultrasound
fetal infections
metabolic or genetic diseases
hematologic diseases
Magnetic Resonance Imaging
fetal infections
metabolic or genetic diseases
▶ Suggested Reading
References
Chapter 29 Intraabdominal Masses
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 30 Megacystis-Microcolon–Intestinal Hypoperistalsis Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modalities
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 31 Sacrococcygeal Teratoma and Fetus in Fetu
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Sacrococcygeal Teratoma
Ultrasound-Morphologic Classification
predominantly cystic tumor (type a)
cystic-solid tumors (type b)
solid tumor with fetal hydrops (type c)
Surgical Classification
Fetus in Fetu
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
gray-scale ultrasound
three-dimensional ultrasound
doppler flow velocimetry
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Sacrococcygeal Teratoma
Fetus in Fetu
Synopsis of Treatment Options
Prenatal
Amnioreduction
Cyst Aspiration
Fetal Surgery
Delivery
Postnatal
Sacrococcygeal Teratoma
Fetus in Fetu
▶ Suggested Reading
References
Chapter 32 Fetal Spleen
Introduction
Congenital Splenic Cysts
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Cardiosplenic Syndromes
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Splenogonadal Fusion Limb Defect Syndrome
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Fetal Splenomegaly and Hypoplastic Spleen
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
▶ Suggested Reading
References
Part 5 Central Nervous System
Chapter 33 Acrania, Exencephaly, Anencephaly, and Encephalocele
Introduction
Acrania and Exencephaly
Definition
Etiology
Anencephaly
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modalities
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Encephalocele
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
▶ Suggested Reading
References
Chapter 34 Cerebral Infections
Introduction
Cytomegalovirus
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Toxoplasmosis
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 35 Choroid Plexus Anomalies:
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 36 Corpus Callosum and Septum Pellucidum Anomalies
Introduction
Corpus Callosum Anomalies
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Absent Septum Pellucidum and Septooptic Dysplasia
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 37 Cortical Development and Disorders
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Specific Malformations of Cortical Development
Microcephaly
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
ultrasound
magnetic resonance imaging
Macrocephaly, Megalencephaly, Macrocrania, and Hemimegalencephaly
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
ultrasound
magnetic resonance imaging
other applicable modality
Neuron Migration Abnormalities (Lissencephaly, Agyria, Heterotopia, and Pachygyria)
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
ultrasound
magnetic resonance imaging
other applicable modality
Differential Diagnosis from Imaging Findings
Disorders of Cortical Organization: Polymicrogyria and Schizencephaly
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
ultrasound
magnetic resonance imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options for Abnormalities of Cortical Development
Prenatal
Postnatal
Acknowledgments
▶ Suggested READING
References
Chapter 38 Cerebellar Anomalies
Introduction
Disease
Definition
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound and Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 39 Holoprosencephaly
Introduction
Disease
Definition
Prevalence and Epidemiology
Embryo
Fetus
International Studies
Etiology and Pathophysiology
Embryology
Environmental Influences
Abnormal Karyotype
Syndromes and Associations
Associated Anomalies
Manifestations of Disease
Clinical Presentation
Brain
Face
Other Possible Associated Cerebral and Facial Anomalies
Agnathia
Detection and Outcome
Imaging Technique and Findings
Ultrasound
first-trimester
Approach
Findings
second and third trimesters
Approach
Findings
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 40 Intracranial Hemorrhage, Cysts, Tumors, and Destructive Lesions
Introduction
Intracranial Hemorrhage
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Porencephaly
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Hydranencephaly
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Schizencephaly
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Intracranial Cysts
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Intracranial Tumors
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
References
Chapter 41 Neural Tube Defects:
Introduction
Craniorachischisis
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Spina Bifida
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Hemivertebra
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
References
Chapter 42 Vascular Cerebral Anomalies
Introduction
Aneurysm of Vein of Galen
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
Dural Sinus Malformation
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Postnatal
Pial Arteriovenous Fistulas
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 43 Ventriculomegaly
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Part 6 First-Trimester Complications
Chapter 44 Abnormal Intrauterine Sac
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
normal embryonic development and ultrasound findings
gestational sac
yolk sac
crown-rump length
cardiac activity
ultrasound findings of early pregnancy failure
subchorionic hematoma
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
▶ Suggested Reading
References
Chapter 45 Nuchal Translucency
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Part 7 Limbs and Bones: An Overview
▶ Suggested Reading
Section One Osteochondrodysplasias—Lethal
Chapter 46 Achondrogenesis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 47 Atelosteogenesis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 48 Asphyxiating Thoracic Dysplasia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 49 Short Rib–Polydactyly Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 50 Thanatophoric Dysplasia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 51 Osteogenesis Imperfecta
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 52 Hypophosphatasia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 53 Campomelic Dysplasia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Two Osteochondrodysplasias—Nonlethal
Chapter 54 Achondroplasia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 55 Spondyloepiphyseal Dysplasia Congenita
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 56 Chondrodysplasia Punctata
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 57 Diastrophic Dysplasia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis Of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 58 Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Three Findings—Spinal Defects
Chapter 59 Caudal Regression Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 60 Klippel-Feil
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
References
Section Four Findings—Anomalous Digits
Chapter 61 Abnormal Hands:
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 62 Abnormal Hands:
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Five Findings—Other
Chapter 63 Abnormal Hands:
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 64 Craniosynostosis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 65 Arthrogryposis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
first trimester
second trimester
third trimester
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 66 Clubfoot (Talipes Equinovarus)
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
References
Part 8 Head and Neck
Section One Facial Anomalies
Chapter 67 Cleft Lip/Palate
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 68 Orbital Defects:
Introduction
Hypertelorism
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Hypotelorism
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 69 Choanal Atresia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 70 Micrognathia and Retrognathia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
three-dimensional ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 71 Facial Dysmorphism
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Abnormalities in Frontal Bone
Nose Abnormalities
Mouth Anomalies
Chin Anomalies
Hemifacial Microsomia
Otocephaly
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Section Two Neck Anomalies
Chapter 72 Cystic Hygroma
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
cystic hygroma versus nuchal translucency
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Surgical
Nonsurgical
References
Chapter 73 Neck Teratoma
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 74 Fetal Thyroid Masses and Fetal Goiter
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Attributable to Compression Caused by the Mass
Related to Thyroid Dysfunction
Imaging Technique and Findings
Ultrasound
indirect signs of thyroid goiter mass
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Three Other
Chapter 75 Congenital High Airway Obstruction Syndrome and Bronchial Atresia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Part 9 Heart and Great Vessels
Section One Normal Heart
Chapter 76 Ultrasound of Normal Fetal Heart
Introduction
Normal Anatomy
General Anatomic Descriptions
Detailed Description of Specific Areas
Normal Variants
Upper Abdomen View
Four-Chamber View
Five-Chamber or Left Ventricular Outflow Tract View
Short-Axis or Right Ventricular Outflow Tract View
Three-Vessel and Trachea View
Longitudinal Views of the Fetal Heart
Early Fetal Echocardiography
Differential Considerations
Ventricular Septal Defect
Hypoplastic Left Heart Syndrome
Tetralogy of Fallot and Transposition of Great Arteries
Atrioventricular Septal Defect
Coarctation of Aorta
Other Types of Congenital Heart Disease
Pertinent Imaging Considerations
▶ Suggested Reading
References
Section Two Septal Defects
Chapter 77 Ventricular Septal Defect
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
four-dimensional echocardiography
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 78 Atrioventricular Septal Defect
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
four-dimensional echocardiography
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Three Right Heart Defects
Chapter 79 Tricuspid Atresia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
four-dimensional echocardiography
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 80 Ebstein Anomaly and Tricuspid Dysplasia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
ebstein anomaly
tricuspid dysplasia
Other Applicable Modality
four-dimensional echocardiography
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Ebstein Anomaly
Tricuspid Dysplasia
▶ Suggested Reading
References
Chapter 81 Pulmonary Stenosis and Atresia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
pulmonary stenosis
pulmonary atresia
Other Applicable Modality
four-dimensional echocardiography
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Four Left Heart Defects
Chapter 82 Aortic Stenosis and Aortic Atresia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 83 Hypoplastic Left Heart Syndrome and Mitral Atresia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 84 Aortic Coarctation
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 85 Interruption of the Aortic Arch
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
four-dimensional echocardiography
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 86 Aortic Arch Anomalies
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
four-dimensional echocardiography
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Five Conotruncal Anomalies
Chapter 87 Tetralogy of Fallot
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 88 Transposition of Great Arteries
Introduction
Complete Transposition of Great Arteries
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
four-dimensional echocardiography
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Corrected Transposition of Great Arteries
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
four-dimensional echocardiography
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 89 Double-Outlet Right Ventricle
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 90 Common Arterial Trunk
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Four-Dimensional Echocardiography
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Six Other Anomalies
Chapter 91 Double-Inlet Single Ventricle
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 92 Atrial Isomerism
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 93 Anomalies of Pulmonary Venous Return
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 94 Anomalies of Systemic Venous Return
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Persistent Left Superior Vena Cava
Inferior Vena Cava Interruption
Agenesis of the Ductus Venosus
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Synopsis of Treatment Options
Postnatal
▶ Suggested Reading
References
Chapter 95 Cardiomyopathy
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 96 Cardiac Tumors
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Seven Arrhythmias
Chapter 97 Arrhythmias
Introduction
Atrial Ectopic Beats
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Synopsis of Treatment Options
Prenatal
Postnatal
Supraventricular Tachycardia
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Supraventricular Tachycardia without Hydrops
Supraventricular Tachycardia and Hydrops
Postnatal
Complete Atrioventricular Block
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Part 10 Placenta and Cord
Chapter 98 Placental Abruption
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 99 Placenta Accreta
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 100 Amniotic Band Sequence
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 101 Chorioangioma
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
▶ Suggested Reading
References
Chapter 102 Choriocarcinoma
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 103 Placenta Circumvallata
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 104 Cord Cysts
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
▶ Suggested Reading
References
Chapter 105 Cord Varix
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
▶ Suggested Reading
References
Chapter 106 Gestational Trophoblastic Disease
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
▶ Suggested Reading
References
Chapter 107 Limb–Body Wall Complex
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
▶ Suggested Reading
References
Chapter 108 Placenta Previa
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 109 Vasa Praevia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
▶ Suggested Reading
References
Part 11 Fetal Growth
Chapter 110 Fetal Macrosomia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Fetus and Neonate
Mother
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 111 Beckwith-Wiedemann Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 112 Intrauterine Growth Restriction
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Doppler
umbilical artery
middle cerebral artery
venous doppler
Differential Diagnosis From Imaging Studies
Synopsis of Treatment
Prenatal
Postnatal
▶ Suggested Reading
References
Part 12 Procedures
Chapter 113 Amniocentesis
Introduction
Procedure
Description, Technique, and Equipment
Indications
Contraindications
Outcomes and Complications
▶ Suggested Reading
References
Chapter 114 Cordocentesis and Fetal Transfusion
Introduction
Procedure
Description, Technique, and Equipment
Setting
Counseling
Technique
Indications
Fetal Anemia
Neonatal Alloimmune Thrombocytopenia
Contraindications
Risks
Contraindications
Outcomes and Complications
Outcomes
Complications
References
Chapter 115 Chorionic Villus Sampling
Introduction
Procedure
Description, Technique, and Equipment
Transcervical Chorionic Villus Sampling
Transabdominal Chorionic Villus Sampling
Indications
Contraindications
Outcomes and Complications
Fetal Loss
Limb-Reduction Defects and Oromandibular Hypogenesis
▶ Suggested Reading
References
Chapter 116 Radiofrequency Ablation
Introduction
Procedure
Description, Technique, and Equipment
Indications
Contraindications
Outcomes and Complications
Twin Reversed Arterial Perfusion Sequence
Other Complicated Monochorionic or Diamniotic Pregnancies
▶ Suggested Reading
References
Chapter 117 Selective Laser Photocoagulation
Introduction
Procedure
Description, Technique, and Equipment
Indications
Contraindications
Outcomes and Complications
▶ Suggested Reading
References
Chapter 118 Fetal Shunts
Introduction
Vesicoamniotic Shunt
Description, Technique, and Equipment
Indications
Contraindications
Outcomes and Complications
Thoracoamniotic Shunts
Description, Technique, and Equipment
Indications
Contraindications
Outcomes and Complications
▶ Suggested Reading
References
Chapter 119 Multifetal Pregnancy Reduction
Introduction
Procedure
Description, Technique, and Equipment
Setting
Counseling
Prenatal Diagnosis
Technique
Experience
Indications
Contraindications
Outcomes and Complications
Fetal Outcome
Maternal Outcome
References
Part 13 Miscellany
Section One Amniotic Fluid Abnormalities
Chapter 120 Polyhydramnios
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
Key Points
▶ Suggested Reading
References
Chapter 121 Oligohydramnios
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Two Fetal Fluid Abnormalities
Chapter 122 Lymphedema and Lymphatic Malformations
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 123 Nonimmune Hydrops
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 124 Immune Fetal Hydrops
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Three Preterm Labor
Chapter 125 Cervical Length and Spontaneous Preterm Birth
Introduction
Disease
Definition
Prevalence and Epidemiology
Length of Cervix
Gestational Age of Testing
Fetal Number
Risk Factors for Preterm Birth
Etiology and Pathophysiology
Uterine Contractility and a Short Cervix
Uterine Overdistention and Short Cervix
Cervical Insufficiency
Summary
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
transvaginal technique
transabdominal technique
timing
tyvu progression, funneling, and dynamic cervix
difficult-to-visualize internal cervical os
amniotic fluid debris or sludge
Magnetic Resonance Imaging
Other Applicable Modality
Synopsis of Treatment Options
Prenatal
Progesterone Supplementation for a Short Cervix
Cerclage for a Short Cervix
Cerclage versus Progesterone
Multiple Gestation
▶ Suggested Reading
References
Part 14 Syndromes
Chapter 126 CHARGE Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 127 Cornelia de Lange Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 128 Cystic Fibrosis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Respiratory Tract
Gastrointestinal Tract
Endocrine System
Reproductive Tract
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 129 Fraser Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 130 Fryns Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 131 Goldenhar Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 132 Klippel-Trénaunay-Weber Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Cutaneous Hemangioma
Vascular Abnormalities
Hemihypertrophy
Occasional Findings
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 133 Larsen Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Skeletal Deformities
Facial Anomalies
Respiratory and Airway Abnormalities
Cardiac Defects
Neurologic Abnormalities
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 134 Meckel-Gruber Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 135 Miller-Dieker Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 136 Multiple Pterygium
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 137 Nager Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 138 Neu-Laxova Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 139 Noonan Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 140 Oral-Facial-Digital Syndromes
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 141 Pena-Shokeir Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 142 Pentalogy of Cantrell
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 143 Pfeiffer Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 144 Pierre Robin Sequence
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 145 Poland Sequence
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 146 Prune-Belly Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Abdominal Wall
Urogenital System
Pulmonary System
Cardiovascular System
Gastrointestinal System
Musculoskeletal System
Prognosis
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 147 Roberts Syndrome
Introduction
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 148 Saethre-Chotzen Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Craniosynostosis
Facies
Limb Anomalies
Development
Other Findings
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 149 Septooptic Dysplasia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 150 Shprintzen Syndrome (Velocardiofacial Syndrome)
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 151 Sirenomelia
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 152 Smith-Lemli-Opitz Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 153 Treacher Collins Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 154 Tuberous Sclerosis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 155 Vater Association
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
vertebral
anal atresia
tracheoesophageal fistula
renal anomalies
radial anomalies
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 156 Walker-Warburg Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 157 Triploidy
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 158 Trisomy 13
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Part 15 Chromosomes
Section One Aneuploidies
Chapter 159 Trisomy 18
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
amniocentesis
first-trimester markers
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 160 Trisomy 21
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
nuchal translucency and cystic hygroma
nuchal fold
absent or hypoplastic nasal bone
ventriculomegaly
echogenic intracardiac focus
echogenic bowel
pyelectasis
short long bones
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 161 Turner Syndrome (Monosomy X)
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Section Two Deletion Syndromes
Chapter 162 22q11.2 Deletion Syndrome (DiGeorge, Shprintzen, Velocardiofacial Syndrome)
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 163 4p− Deletion Syndrome (Wolf-Hirschhorn Syndrome)
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 164 5p− Syndrome (Cri du Chat Syndrome)
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Part 16 Multiple Gestation
Chapter 165 Chorionicity of Multiple Gestations
Introduction
Normal Anatomy
General Anatomic Descriptions
Detailed Description of Specific Areas
Normal Variants
Differential Considerations
Pertinent Imaging Considerations
▶ Suggested Reading
References
Chapter 166 Monochorionic Monoamniotic Twin Gestations
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 167 Monochorionic Diamniotic Twin Gestations
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 168 Dichorionic Diamniotic Twin Gestations
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 169 Twin-Twin Transfusion Syndrome
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Other Applicable Modality
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 170 Twin Reversed Arterial Perfusion Sequence
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Indication for Treatment
Therapy Options
Outcomes in the Literature
Postnatal
▶ Suggested Reading
References
Chapter 171 Procedures in Multiples
Introduction
Procedure
Description, Technique, and Equipment
Chorionic Villus Sampling in Multiple Gestations
Amniocentesis in Multiple Gestations
Multiple Needle Technique
Single Needle Insertion Technique
Indications
Contraindications
Outcomes and Complications
Chorionic Villus Sampling
Amniocentesis
Monochorionic Twins
▶ Suggested Reading
References
Part 17 Infections
Chapter 172 Cytomegalovirus
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Diagnosis
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 173 Parvovirus B19 Infection during Pregnancy
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Imaging Technique and Findings
Ultrasound
gray-scale ultrasound
middle cerebral artery doppler ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 174 Rubella
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Diagnosis
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 175 Toxoplasmosis
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Diagnosis
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 176 Herpes Simplex Virus
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Diagnosis
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 177 Varicella
Introduction
Disease
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Diagnosis
Imaging Technique and Findings
Ultrasound
Magnetic Resonance Imaging
Differential Diagnosis from Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Chapter 178 Congenital Syphilis
Introduction
Disease
Definition
Prevalence and Epidemiology
Etiology and Pathophysiology
Manifestations of Disease
Clinical Presentation
Prenatal
Neonatal
Imaging Technique and Findings
Ultrasound
Differential Diagnosis From Imaging Findings
Synopsis of Treatment Options
Prenatal
Postnatal
▶ Suggested Reading
References
Index
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

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OBSTETRIC IMAGING JOSHUA A. COPEL, MD

Professor and Vice Chair, Obstetrics Obstetrics, Gynecology, and Reproductive Sciences Professor, Pediatrics Yale University School of Medicine New Haven, Connecticut

Mary E. D’Alton, MB, BCh, BAO

Willard C. Rappleye Professor of Obstetrics and Gynecology Chair, Obstetrics and Gynecology Columbia University, College of Physicians and Surgeons Director, Obstetrics and Gynecology Services Columbia University Medical Center New York, New York

Eduard Gratacós, MD, PhD

Head and Professor, Maternal-Fetal Medicine Department Hospital Clínic, IDIBAPS University of Barcelona and CIBER-ER Barcelona, Spain

Lawrence D. Platt, MD

Professor of Obstetrics and Gynecology David Geffen School of Medicine at UCLA Director, Center for Fetal Medicine and Women’s Ultrasound Los Angeles, California

Boris Tutschek, MD, PhD

Professor of Obstetrics and Gynecology Center for Fetal Medicine and Women’s Ultrasound Basel, Switzerland Heinrich Heine University Düsseldorf, Germany

Helen Feltovich, MD, MS

Maternal-Fetal Medicine Department of Obstetrics and Gynecology Intermountain Healthcare Provo, Utah

Anthony O. Odibo, MD, MSCE

Associate Professor, Fetal Care Center Division of Maternal-Fetal Medicine Department of Obstetrics and Gynecology Washington University in St. Louis St. Louis, Missouri

1600 John F. Kennedy Blvd. Ste 1800 Philadelphia, PA 19103-2899 OBSTETRIC IMAGING

ISBN: 978-1-4377-2556-8

Copyright © 2012 by Saunders, an imprint of Elsevier Inc. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Details on how to seek permission, further information about the Publisher’s permissions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website: www.elsevier.com/ permissions. This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein).

Notices Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding, changes in research methods, professional practices, or medical treatment may become necessary. Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds, or experiments described herein. In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility. With respect to any drug or pharmaceutical products identified, readers are advised to check the most current information provided (i) on procedures featured or (ii) by the manufacturer of each product to be administered, to verify the recommended dose or formula, the method and duration of administration, and contraindications. It is the responsibility of practitioners, relying on their own experience and knowledge of their patients, to make diagnoses, to determine dosages and the best treatment for each individual patient, and to take all appropriate safety precautions. To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Library of Congress Cataloging-in-Publication Data Obstetric imaging / [edited by] Joshua A. Copel.    p. ; cm.—(Expert radiology)   Includes bibliographical references and index.   ISBN 978-1-4377-2556-8 (hardcover)   I.  Copel, Joshua A.  II.  Series: Expert radiology series.   [DNLM: 1.  Congenital Abnormalities—diagnosis.  2.  Diagnostic Imaging.  3.  Fetus—abnormalities.  4.  Prenatal Diagnosis. QS 675]   618.92′00754—dc23     2012010876

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To our patients, and to our teachers and mentors, for sharing so much with us. To our families for enabling us to have the time and energy to complete our work. And in memory of Charlie Kleinman, who taught us all.

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Contributors Joann Acuna, MD Department of OB/GYN Division of Maternal-Fetal Medicine Cedars-Sinai Medical Center Los Angeles, California Marijo Aguilera, MD Maternal-Fetal Medicine University of Minnesota Minneapolis, Minnesota Marta Arigita, MD Research Fellow Maternal-Fetal Medicine Department Hospital Clinic Barcelona, Spain Mert O. Bahtiyar, MD Associate Professor, Obstetrics, Gynecology, and Reproductive Sciences Director, Yale Fetal Therapy Center Yale University School of Medicine New Haven, Connecticut

Harm-Gerd K. Blaas, MD, PhD Senior Consultant, National Center for Fetal Medicine Department of Laboratory Medicine Children’s and Women’s Health Faculty of Medicine Norwegian University of Science and Technology (NTNU) Trondheim, Norway April T. Bleich, MD Maternal Fetal Medicine Fellow Department of Obstetrics and Gynecology University of Texas Southwestern Dallas, Texas Rachael Bradshaw, MS Genetic Counselor, Obstetrics and Gynecology Washington University School of Medicine St. Louis, Missouri Thorsten Braun, MD Charité—University Berlin Obstetrics Campus Virchow Klinikum Berlin, Germany

Marc U. Baumann, MD Obstetrics and Gynecology University of Bern Inselspital Bern, Switzerland

Alison G. Cahill, MD, MSCI Assistant Professor, Obstetrics and Gynecology Division of Maternal-Fetal Medicine Washington University School of Medicine St. Louis, Missouri

Mar Bennasar, MD Consultant Maternal-Fetal Medicine Department Hospital Clinic, IDIBAPS University of Barcelona and CIBER-ER Barcelona, Spain

Katherine H. Campbell, MD, MPH Clinical Instructor, Obstetrics, Gynecology, and Reproductive Sciences Yale University School of Medicine New Haven, Connecticut

Richard L. Berkowitz, MD Professor, Obstetrics and Gynecology Columbia University Medical Center New York, New York Amar Bhide, MD, FRCOG Consultant in Fetal Medicine Fetal Medicine Unit St. George’s Hospital London, United Kingdom

Jenna M. Cedar, MS, CGC Certified Genetic Counselor, Maternal Fetal Medicine Memorial Health System Colorado Springs, Colorado Frederic Chantraine, MD Obstetrics and Gynecology CHR Citadelle University of Liege Liege, Belgium Tamara T. Chao, MD Maternal-Fetal Medicine Obstetrics and Gynecology University of Texas Southwestern Medical Center at Dallas Dallas, Texas

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Contributors Filip Claus, MD, PhD Professor, Radiology University Hospitals Leuven Leuven, Belgium

Jodi S. Dashe, MD Professor, Obstetrics and Gynecology University of Texas Southwestern Medical Center Dallas, Texas

Jaclyn M. Coletta, MD Clinical Fellow, Maternal Fetal Medicine Obstetrics and Gynecology Columbia University Medical Center New York, New York

Sarah M. Davis, MD Clinical Instructor, Obstetrics, Gynecology, and Reproductive Sciences University of Vermont Burlington, Vermont

Elena Contro, MD Fetal Medicine Unit St. Orsola-Malpighi University Hospital Bologna, Italy

Francesca De Musso, MD Obstetrics and Gynecology St. Orsola-Malpighi University Hospital Bologna, Italy

Joshua A. Copel, MD Professor and Vice Chair, Obstetrics Obstetrics, Gynecology, and Reproductive Sciences Professor, Pediatrics Yale University School of Medicine New Haven, Connecticut

Valentina De Robertis, MD Fetal Medicine Unit Di Venere and Sarcone Hospitals Bari, Italy

Fatima Crispi, MD, PhD Consultant and Senior Researcher Maternal-Fetal Medicine Department Hospital Clinic-IDIBAPS University of Barcelona and CIBER-ER Hospital Clinic Barcelona, Spain Monica Cruz-Lemini, MD, MSc Research Fellow Maternal-Fetal Medicine Department Hospital Clinic-IDIBAPS University of Barcelona and CIBER-ER Hospital Clinic Barcelona, Spain Rogelio Cruz-MartÍnez, MD, PhD Research Fellow Maternal-Fetal Medicine Department Hospital Clinic Barcelona, Spain Mary E. D’Alton, MB, BCh, BAO Willard C. Rappleye Professor of Obstetrics and Gynecology Chair, Obstetrics and Gynecology Columbia University, College of Physicians and Surgeons Director, Obstetrics and Gynecology Services Columbia University Medical Center New York, New York Francesco D’Antonio, MD Fetal Medicine Unit Academic Department of Obstetric and Gynaecology St. George’s University of London London, United Kingdom

Philip DeKoninck, MD Gynecology and Obstetrics University Hospitals Leuven Leuven, Belgium Jan Deprest, MD, PhD Professor in Obstetrics and Gynecology Academic Chair, Department of Development and Regeneration Clinical Division of Woman and Child Fetal Medicine Unit University Hospitals Leuven—Campus Gasthuisberg Leuven, Belgium Roland Devlieger, MD, PhD Professor and Doctor, Obstetrics and Gynecology University Hospitals Leuven Leuven, Belgium Anke Diemert, MD Doctor, Obstetrics and Prenatal Medicine University Medical Center Hamburg-Eppendorf Hamburg, Germany Katherine R. Dunn, MS Genetic Counselor, Genomic Medicine Service Department of Veterans Affairs Salt Lake City, Utah Christina M. Duzyj, MD, MPH Clinical Instructor and Fellow in Maternal Fetal Medicine Obstetrics, Gynecology, and Reproductive Sciences Yale University New Haven, Connecticut Meg Eilers, MS, CGC Genetic Counselor, Maternal Fetal Medicine Centers Fairview Health Services Minneapolis, Minnesota

Contributors Elisenda Eixarch, MD Consultant, Maternal-Fetal Medicine Department Hospital Clinic-IDIBAPS University of Barcelona and CIBER-ER Barcelona, Spain

Julie A. Gainer, DO Utah Valley Regional Medical Center Maternal Fetal Medicine Intermountain Healthcare Provo, Utah

Alexandra G. Eller, MD, MPH Physician, Maternal Fetal Medicine Intermountain Healthcare Murray, Utah Assistant Professor, Obstetrics and Gynecology University of Utah Salt Lake City, Utah

France Galerneau, MD, FRCSC Associate Professor, Obstetrics and Gynecology Yale University Medical School New Haven, Connecticut

Michele Eno, MD Obstetrics and Gynecology Cedars Sinai Medical Center Los Angeles, California Jakob Evers, MD Obstetrics and Gynecology University of Bern Inselspital Bern, Switzerland Helen Feltovich, MD, MS Maternal-Fetal Medicine Department of Obstetrics and Gynecology Intermountain Healthcare Provo, Utah Susana Fernández, MD Francesc Figueras, MD, PhD Head of High Risk Obstetrics and Associate Professor Maternal-Fetal Medicine Department Hospital Clinic-IDIBAPS University of Barcelona and CIBER-ER Barcelona, Spain Amy Flick, MD Maternal Fetal Medicine Fellow Obstetrics and Gynecology University of California Ronal Reagan Hospital Los Angeles, California Karen Flood, MD Obstetrics and Gynecology College of Physicians and Surgeons Columbia University New York, New York Karin M. Fuchs, MD Assistant Clinical Professor, Obstetrics and Gynecology Division of Maternal Fetal Medicine Columbia University Medical Center New York, New York

Kobina Ghartey, MD Fellow, Maternal Fetal Medicine Columbia Presbyterian New York, New York Tullio Ghi, MD, PhD Consultant, Obstetrics and Gynecology University of Bologna Bologna, Italy Katherine R. Goetzinger, MD Obstetrics and Gynecology Washington University in St. Louis St. Louis, Missouri Steven R. Goldstein, MD Obstetrics and Gynecology New York University School of Medicine New York, New York Olga Gómez, MD, PhD Senior Specialist, Maternal-Fetal Medicine Institut Clínic de Ginecologia, Obstetrícia i Neonatologia Hospital Clinic University of Barcelona and Centro de Investigación Biomédica en Enfermedades Raras (CIBER-ER) Barcelona, Spain Eduard Gratacós, MD, PhD Head and Professor Maternal-Fetal Medicine Hospital Clinic, IDIBAPS University of Barcelona and CIBER-ER Barcelona, Spain Jessica Gremp, MD Resident Physician, Obstetrics and Gynecology Medical College of Wisconsin Affiliated Hospitals Milwaukee, Wisconsin Léonardo Gucciardo, MD Obstetrics and Gynecology Division of Woman and Child Fetal Medicine Unit University Hospitals, Leuven Leuven, Belgium

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Contributors Christina S. Han, MD Assistant Professor, Obstetrics, Gynecology, and Reproductive Sciences Division of Maternal-Fetal Medicine Yale University School of Medicine New Haven, Connecticut Lorie M. Harper, MD Obstetrics and Gynecology Washington University in St. Louis St. Louis, Missouri Asha J. Heard, MD, MPH Fellow, Obstetrics and Gynecology Division of Maternal Fetal Medicine Tufts Medical Center Boston, Massachusetts Marianne A. Helvey, RDMS, RVT Maternal Fetal Medicine Utah Valley Regional Medical Center Provo, Utah Wolfgang Henrich, MD, PhD Professor and Head, Obstetrics Charité-University Hospital Berlin, Germany Jennifer S. Hernandez, MD Fellow, Obstetrics and Gynecology The University of Texas Southwestern Medical Center Dallas, Texas Cara C. Heuser, MD Maternal-Fetal Medicine Intermountain Medical Center Murray, Utah Assistant Professor, Maternal-Fetal Medicine University of Utah Health Sciences Center Salt Lake City, Utah Lyndon M. Hill, MD Director, Obstetric and Gynecologic Ultrasound Obstetrics, Gynecology, and Reproductive Sciences University of Pittsburgh Medical Center Magee Women’s Hospital Pittsburgh, Pennsylvania John C. Hobbins, MD Professor, Obstetrics and Gynecology University of Colorado Anschutz Medical Campus Aurora, Colorado Michael House, MD Associate Professor, Maternal Fetal Medicine Tufts Medical Center Boston, Massachusetts Mary Hovis, RT, RDMS Sonographer, Maternal Fetal Medicine University of Minnesota/Fairview Minneapolis, Minnesota

Rebecca S. Hulinsky, MS, CGC Certified Genetic Counselor, Maternal Fetal Medicine Intermountain Healthcare Salt Lake City, Utah Jon A. Hyett, MBBS, BSc, MD, MRCOG, FRANZCOG Head, High Risk Obstetrics Royal Prince Alfred Hospital Head of Discipline, Obstetrics, Gynaecology, and Neonatology University of Sydney Sydney, Australia Chitra Iyer, MD Perinatologist Obstetrix Medical Group Fort Worth, Texas G. Marc Jackson, MD, MBA Maternal-Fetal Medicine Intermountain Healthcare Obstetrics and Gynecology University of Utah School of Medicine Salt Lake City, Utah Keri L. Johnson, AS, ARRT, ARDMS Ultrasonographer, MFM Radiologic Technologist, Diagnostic Imaging UVRMC Provo, Utah Cresta Wedel Jones, MD Assistant Professor, Maternal-Fetal Medicine Obstetrics and Gynecology Medical College of Wisconsin Milwaukee, Wisconsin Franz Kainer, Prof, Dr Perinatal Centre LMU Munich Munich, Germany Karim D. Kalache, Prof, Dr Med Obstetrics Charité University Hospital Berlin, Germany Laura L. Klein, MD Medical Director, Maternal-Fetal Medicine, Director of High Risk Obstetric Transport Memorial Health System Colorado Springs, Colorado Deborah Krakow, MD Professor, Orthopaedic Surgery, Human Genetics, and Obstetrics and Gynecology David Geffen School of Medicine at UCLA Los Angeles, California

Contributors Tally Lerman-Sagie, MD Director, Pediatric Neurology Unit Edith Wolfson Medical Center Holon, Israel Associate Clinical Professor Sackler School of Medicine Tel Aviv University Tel Aviv, Israel Veronica T. Lerner, MD Assistant Clinical Professor, Obstetrics and Gynecology New York University New York, New York Sharyn N. Lewin, MD Assistant Clinical Professor, Obstetrics and Gynecology Division of Gynecologic Oncology Columbia University College of Physicians and Surgeons New York, New York Ling Li, MD, PhD, RDMS Postdoctoral Fellow, Obstetrics and Gynecology Yale University New Haven, Connecticut Ultrasonic Medicine The Second Xiangya Hospital Central South University Changsha Hunan, China Ryan E. Longman, MD Assistant Professor and Director of Obstetrical Genetics Division of Maternal-Fetal Medicine Washington University in St. Louis School of Medicine St. Louis, Missouri Urania Magriples, MD Associate Professor, Obstetrics and Gynecology Yale University School of Medicine New Haven, Connecticut Gustavo Malinger, MD Director, Fetal Neurology Clinic Division of Prenatal Diagnosis Edith Wolfson Medical Center Holon, Israel Associate Clinical Professor Sackler School of Medicine Tel Aviv University Tel Aviv, Israel Stephanie R. Martin, DO Associate Professor and Division Director Maternal Fetal Medicine Baylor College of Medicine Director, Labor and Delivery and Critical Care Texas Children’s Pavilion for Women Houston, Texas

Josep M. Martinez, MD, PhD Senior Consultant and Head Fetal Cardiology Unit Maternal-Fetal Medicine Department Hospital Clinic-IDIBAPS University of Barcelona and CIBER-ER Barcelona, Spain Sarah H. Martinez, BS, RDMS, RDCS, RVT Denver, Colorado Silke A. M. Michaelis, MD, MRCOG Department of Obstetrics Charité University Hospital Berlin, Germany Russell S. Miller, MD Assistant Professor, Obstetrics and Gynecology Columbia University Medical Center New York, New York Freddy J. Montero, MD Clinical Fellow, Obstetrics and Gynecology Division of Maternal-Fetal Medicine New York Presbyterian Hospital Columbia University Medical Center New York, New York Michelle M. Moore, MS Genetic Counselor, Maternal Fetal Medicine Memorial Health System Colorado Springs, Colorado Claudia Mosquera, MD Fellow, Maternal Fetal Medicine Columbia University New York, New York Aisling Murphy, MB, BCh Doctor, Obstetrics and Gynecology David Geffen School of Medicine University of California, Los Angeles Los Angeles, California Unzila A. Nayeri, MD Obstetrics and Gynecology Yale University New Haven, Connecticut Anthony O. Odibo, MD, MSCE Associate Professor, Fetal Care Center Division of Maternal-Fetal Medicine Department of Obstetrics and Gynecology Washington University in St. Louis St. Louis, Missouri Dotun Ogunyemi, MD Vice Chair of Education Obstetrics and Gynecology Cedar Sinai Medical Center Los Angeles, California

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Contributors Aris T. Papageorghiou, MRCOG, MD Consultant in Obstetrics and Fetal Medicine Fetal Medicine Unit St. George’s University of London London, United Kingdom Reshma Parikh, MD Assistant Professor, Obstetrics and Gynecology Division of Maternal Fetal Medicine University of Massachusetts Memorial Medical Center University of Massachusetts Worcester, Massachusetts Felicity J. Park, MBBS Fellow, Maternal Fetal Medicine Royal Prince Alfred Hospital Sydney, Australia Erika L. Peterson, MD Assistant Professor, Obstetrics and Gynecology Medical College of Wisconsin Milwaukee, Wisconsin Christian M. Pettker, MD Assistant Professor, Obstetrics, Gynecology, and Reproductive Sciences Yale University School of Medicine New Haven, Connecticut Gianluigi Pilu, MD Associate Professor, Obstetrics and Gynecology University of Bologna Bologna, Italy Lawrence D. Platt, MD Professor of Obstetrics and Gynecology David Geffen School of Medicine at UCLA Director, Center for Fetal Medicine and Women’s Ultrasound Los Angeles, California Shai M. Pri-Paz, MD Clinical Fellow, Obstetrics and Gynecology Division of Maternal Fetal Medicine Columbia University Medical Center New York, New York Bienvenido Puerto, Phd Head of Ultrasound Unit and Associate Professor Maternal-Fetal Medicine Department Hospital Clinic-IDIBAPS University of Barcelona and CIBER-ER Barcelona, Spain Melissa Quinn, BS, RDMS Registered Diagnostic Medical Sonographer MFM Ultrasound New York Presbyterian Hospital/Columbia University Adjunct Instructor, Diagnostic Medical Sonography Sanford Brown Institute New York, New York

Luigi Raio, MD Obstetrics and Gynecology University of Bern Inselspital Bern, Switzerland Georgios Rembouskos, MD Fetal Medicine Unit Di Venere and M. Sarcone Hospitals Bari, Italy Mariachiara Resta Radiology SS Annunziata Hospital Taranto, Italy Maurizio Resta Radiology SS Annunziata Hospital Taranto, Italy Jute Richter, MD Division of Woman and Child Obstetrics and Gynecology Fetal Medicine Unit University Hospitals Leuven Leuven, Belgium Amber Samuel, MD Obstetric and Gynecology Division of Maternal-Fetal Medicine Columbia University Medical Center New York, New York Inga Sandaite, MD Radiology Division of Medical Imaging University Hospitals Leuven Leuven, Belgium Magdalena Sanz-Cortés, MD, PhD Consultant Maternal-Fetal Medicine Department Hospital Clinic-IDIBAPS University of Barcelona and CIBER-ER Barcelona, Spain Hen Yitzhak Sela, MD Attending Physician, Obstetrics and Gynecology Division of Maternal Fetal Medicine Columbia University Medical Center New York, New York Lecturer, Obstetrics and Gynecology Hadassah Hebrew University Medical Center Jerusalem, Israel Wendy K. Shaffer, BS, RDMS Chief Perinatal Sonographer Yale Maternal-Fetal Medicine Yale-New Haven Hospital New Haven, Connecticut

Contributors Bob Silver, MD Professor, Obstetrics and Gynecology University of Utah Health Sciences Center Salt Lake City, Utah

Dan Vadim Valsky, MD Specialist, Obstetrics and Gynecology Hadassah-Hebrew University Medical Centers, Mt. Scopus Jerusalem, Israel

Lynn L. Simpson, BSc, MSc, MD Associate Professor, Obstetrics and Gynecology Center for Prenatal Pediatrics Columbia University Medical Center New York, New York

Ignatia B. Van den Veyver, MD Professor and Vice Chair of Research Obstetrics and Gynecology Professor and Director of Prenatal Genetics, Molecular and Human Genetics Co-Director, Graduate Program Translational Biology and Molecular Medicine Baylor College of Medicine Houston, Texas

Kami Sondrup, RDMS, RT(R) Sonographer, Maternal Fetal Medicine Utah Valley Regional Medical Center Intermountain Healthcare Provo, Utah Jens H. Stupin, MD Obstetrics Charité—University Medicine Berlin Berlin, Germany Sevgi Tercanli, MD, PhD Professor of Obstetrics and Gynecology Center for Fetal Medicine and Women’s Ultrasound Basel, Switzerland Stephen F. Thung, MD, MSCI Associate Professor, Obstetrics, Gynecology, and Reproductive Sciences Yale University New Haven, Connecticut Ilan E. Timor-Tritsch, MD Professor, Obstetrics and Gynecology Director, Obstetrics and Gynecology Ultrasound Unit Department of Obstetrics and Gynecology New York University School of Medicine New York, New York Ants Toi, MD, FRCPC, FAIUM Radiologist, Medical Imaging Mt. Sinai Hospital; Professor, Radiology and Obstetrics and Gynecology University of Toronto Toronto, Canada Boris Tutschek, MD, PhD Professor of Obstetrics and Gynecology Center for Fetal Medicine and Women’s Ultrasound Basel, Switzerland Heinrich Heine University Düsseldorf, Germany Methodius G. Tuuli, MD, MPH Assistant Professor, Obstetrics and Gynecology Washington University School of Medicine St. Louis, Missouri

Tim Van Mieghem, MD, PhD Research Fellow, Obstetrics and Gynecology University Hospitals Leuven Leuven, Belgium Joy Vink, MD Maternal Fetal Medicine Fellow Obstetrics and Gynecology Columbia University Medical Center New York, New York Paolo Volpe, MD Fetal Medicine Unit Di Venere and Sarcone Hospitals Bari, Italy Erika F. Werner, MD Assistant Professor, Obstetrics and Gynecology Johns Hopkins University Baltimore, Maryland Heron Werner, Jr., MD Obstetrics and Gynecology Fetal Medicine Clínica de Diagnóstico por Imagem—CDPI Rio de Janeiro, Brazil Simcha Yagel, MD Head, Division of Obstetrics and Gynecology Hadassah-Hebrew University Medical Centers Jerusalem, Israel Yasuko Yamamura Assistant Professor, Maternal Fetal Medicine University of Minnesota Minneapolis, Minnesota Nikolaos M. Zacharias, MD, FACOG Assistant Professor, Obstetrics and Gynecology Maternal-Fetal Medicine Baylor College Of Medicine Medical Director, Harris County Prenatal Ultrasound Harris County Hospital District Houston, Texas

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Foreword It has been 58 years since Ian Donald published the first crude ultrasound images of the fetus, and exactly 40 years since the first early prenatal diagnosis of anencephaly by ultrasound. These early images were obtained with large, cumbersome static scanning machines, and it was the development of the real-time scanner in the late 1970s that created the ultrasound revolution. Real-time imaging was a great democratizing influence, because no longer was obstetric scanning confined to an elite group of specialists in a few major centers. Inexpensive real-time scanners very quickly became widely available, and many experienced practitioners of static scanning were surprised at how quickly their junior doctors and sonographers became experts in scanning almost overnight. The ease with which the probe could be manipulated meant that many fetal structures were studied and measured, and a great number of charts of different planes and organs were developed. The study of fetal anatomy and function was enhanced by the development of computed sonography, color Doppler, and transvaginal sonography in the mid-1980s and 3D imaging in the 1990s. In just half a century, ultrasound had transformed prenatal care of the mother and her unborn baby from a primitive art to one of the most advanced medical specialties. Indeed for any fetus the ultrasound anatomical assessment that it receives prenatally is argu­­ ably more comprehensive and systematic than it will re­­ceive for the rest of its life. Ultrasound also provides information on growth and development and functional problems that could have long-term implications for the health of the individual. That is why a comprehensive understanding of the numerous anatomical and developmental problems is so important for the practicing obstetrician. This book provides encyclopedic information about every possible congenital malformation, either genetic or

acquired, in an accessible, structured, and concise format. Each condition is defined; the prevalence, etiology, and pathophysiology described; and the ultrasound features, differential diagnosis, and management options discussed. A synopsis and list of key points are also standard features of each chapter. Both normal and abnormal ultrasound anatomy are beautifully illustrated, and the quality of the writing by the distinguished team of experts is of a uniformly high standard. Finally of course the book and additional illustrative videos can be accessed on the web, which is essential for the busy practitioner when faced with an unexpected ultrasound finding. The next phase in the development of ultrasound prenatal diagnosis is for it to move gradually out of the expert teaching centers to the district and community hospitals, and for this to happen the residents of today must acquire the skills and knowledge to provide their patients with optimal information about their unborn baby. Prenatal diagnosis is enmeshed in ethical controversies, but the one inescapable fact that is abundantly clear is that the vast majority of couples wish—and therefore deserve—to know as much and as early as possible about the health and normality of their unborn baby. What is done with this information is decided by the couple in consultation with their doctor and the relevant specialists. This excellent book provides the most up-to-date information on ultrasound prenatal diagnosis and will be essential reading not just for fetal-maternal medicine specialists, but for all obstetricians and trainees. Stuart Campbell, MD Create Health Clinic London, United Kingdom

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Preface When Elsevier first approached me about producing this text, the idea was a bit overwhelming. The Expert Radiology series is a significant brand within the Elsevier portfolio, so there would be a high standard to maintain. The sheer breadth of topics that would need to be covered was daunting in itself. And who has the time to do all this with hectic clinical and academic lives? Indeed, the best way to get anything done is to ask a busy person, and to my great fortune I found six of the busiest to act as co-editors. Four world-class experts, Mary D’Alton, Eduard Gratacos, Larry Platt, and Boris Tutschek, served as senior editors, and reached out through their departments and beyond to find chapter authors. Two, Helen Feltovich and Tony Odibo, are fast becoming leaders in the field, and worked with more senior editors for parts of the book. I am forever indebted to them for their contributions. The section on skeletal anomalies would not have happened without the special expertise of Debbie Krakow, and I owe her particular thanks. The format of the book is intended for both print and web access. We hope that clinicians with particular clinical findings will use the web version to search for differential

diagnostic possibilities in ways that print indexes cannot do. We also believe that the video clips embedded in the website will add even more to the value of the resource. This whole project would never have happened if not for the persistence of Rebecca Gaertner from Elsevier, who first invited me to become involved. I am also grateful to Pam Hetherington, who took over as Acquisitions Editor early on. Special thanks also go to Roxanne Halpine Ward, Developmental Editor, and the most important day-to-day contact for all of the editors and authors. Finally, the authors of all the chapters deserve reco­ gnition for their work in producing outstanding contri­ butions. All of the editors share my gratitude and, frankly, awe, at what came from our colleagues in producing this volume. Joshua A. Copel, MD Professor and Vice Chair, Obstetrics Obstetrics, Gynecology, and Reproductive Sciences Professor, Pediatrics Yale University School of Medicine New Haven, Connecticut

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Contents Contributors Foreword Preface Video Contents

v xiii xv xxiii

PART 1  ATLAS OF SELECTED NORMAL IMAGES CHAPTER 1  Atlas of Selected Normal Images

1

13

17 21 24

Rogelio Cruz-Martínez and Eduard Gratacós

27

Ling Li and Joshua A. Copel

CHAPTER 7  Other Thoracic Tumors and Masses

CHAPTER 21  Omphalocele CHAPTER 22  Echogenic Bowel CHAPTER 23  Intrahepatic Calcifications

31

CHAPTER 24  Abdominal Cysts

35 39

Tamara T. Chao and Jodi S. Dashe

43

Jennifer S. Hernandez and Jodi S. Dashe

47

Jennifer S. Hernandez and Jodi S. Dashe

50

Jennifer S. Hernandez and Jodi S. Dashe

54

Tamara T. Chao and Jodi S. Dashe

CHAPTER 14  Posterior Urethral Valves

58

Tamara T. Chao and Jodi S. Dashe

CHAPTER 15  Multicystic Dysplastic Kidney

63

April T. Bleich and Jodi S. Dashe

CHAPTER 16  Autosomal Recessive (Infantile) Polycystic Kidney Disease April T. Bleich and Jodi S. Dashe

114

Silke A. M. Michaelis and Karim D. Kalache

CHAPTER 26  Intestinal Obstruction

120

Thorsten Braun and Wolfgang Henrich

April T. Bleich and Jodi S. Dashe

CHAPTER 13  Duplicated Collecting System

105

Frederic Chantraine and Boris Tutschek

SECTION ONE  KIDNEY

CHAPTER 12  Renal Pelvis Dilatation

101

PART 4  GASTROINTESTINAL

Tim Van Mieghem, Philip DeKoninck, Inga Sandaite, Léonardo Gucciardo, Jute Richter, Roland Devlieger, Filip Claus, and Jan Deprest

CHAPTER 11  Unilateral Renal Agenesis

98

France Galerneau

CHAPTER 27  Congenital Diaphragmatic Hernia

CHAPTER 10  Bilateral Renal Agenesis

90

Stephen F. Thung

PART 3  ABDOMEN

CHAPTER 9  Abnormal Kidney Size

83

Katherine H. Campbell and Joshua A. Copel

CHAPTER 25  Biliary Anomalies

Mónica Cruz-Lemini and Eduard Gratacós

CHAPTER 8  Abnormal Kidney Location

79

Katherine H. Campbell and Joshua A. Copel

Mónica Cruz-Lemini and Eduard Gratacós

CHAPTER 6  Thymus

76

Christian M. Pettker

CHAPTER 20  Gastroschisis

Dan Vadim Valsky, Rogelio Cruz-Martinez, and Simcha Yagel

CHAPTER 5  Scimitar Syndrome

SECTION THREE  OTHER

Erika F. Werner and Christian M. Pettker

Dan Vadim Valsky, Rogelio Cruz-Martinez, and Simcha Yagel

CHAPTER 4  Hydrothorax

71

Christina S. Han and Joshua A. Copel

CHAPTER 19  Cloacal Abnormalities

PART 2  THORAX

CHAPTER 3  Extralobar Bronchopulmonary Sequestration

CHAPTER 17  Fetal Adrenal Abnormalities

CHAPTER 18  Ambiguous Genitalia

Mert O. Bahtiyar, Unzila A. Nayeri, and Wendy K. Shaffer

CHAPTER 2  Congenital Cystic Adenomatoid Malformation of the Lung

SECTION TWO  ADRENALS

CHAPTER 28  Hepatic Anomalies

143

Marc Baumann and Boris Tutschek

CHAPTER 29  Intraabdominal Masses

152

Felicity J. Park and Jon A. Hyett

CHAPTER 30  Megacystis-Microcolon–Intestinal Hypoperistalsis Syndrome

158

Jakob Evers and Luigi Raio

CHAPTER 31  Sacrococcygeal Teratoma and Fetus in Fetu

162

Franz Kainer

CHAPTER 32  Fetal Spleen

167

Anke Diemert and Boris Tutschek

PART 5  CENTRAL NERVOUS SYSTEM CHAPTER 33  Acrania, Exencephaly, Anencephaly, and Encephalocele

67

137

174

Sevgi Tercanli, Elena Contro, Tullio Ghi, Gianluigi Pilu, and Boris Tutschek

xvii

xviii Contents CHAPTER 34  Cerebral Infections

180

Heron Werner and Gustavo Malinger

CHAPTER 35  Choroid Plexus Anomalies: Cysts and Papillomas

CHAPTER 54  Achondroplasia 187

Jens H. Stupin and Wolfgang Henrich

CHAPTER 36  Corpus Callosum and Septum Pellucidum Anomalies

193

203

CHAPTER 57  Diastrophic Dysplasia

214

Katherine R. Dunn, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

219

CHAPTER 58  Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)

Harm-Gerd K. Blaas

CHAPTER 40  Intracranial Hemorrhage, Cysts, Tumors, and Destructive Lesions

243 251 256

Francesco D’Antonio and Aris T. Papageorghiou

262

Veronica T. Lerner, Steven R. Goldstein, and Ilan E. Timor-Tritsch

CHAPTER 45  Nuchal Translucency

270

Karen Flood and Mary E. D’Alton

277

280

283

285

CHAPTER 63  Abnormal Hands: Shape

288

329

SECTION FIVE  FINDINGS—OTHER 334 339

CHAPTER 66  Clubfoot (Talipes Equinovarus)

345

PART 8  HEAD AND NECK CHAPTER 67  Cleft Lip/Palate

348

Olga Gómez and Bienvenido Puerto

CHAPTER 68  Orbital Defects: Hypertelorism and Hypotelorism

354

Elisenda Eixarch and Bienvenido Puerto

356

Fatima Crispi and Bienvenido Puerto

CHAPTER 70  Micrognathia and Retrognathia

358

Magdalena Sanz-Cortés, Olga Gómez, and Bienvenido Puerto

291

Aisling Murphy, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

294

CHAPTER 71  Facial Dysmorphism

SECTION TWO  NECK ANOMALIES CHAPTER 72  Cystic Hygroma

CHAPTER 53  Campomelic Dysplasia

Marta Arigita, Mar Bennasar, and Bienvenido Puerto

297

365

Elisenda Eixarch, Francesc Figueras, Olga Gómez, and Bienvenido Puerto

Amy Flick, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow Katherine R. Dunn, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

323

Jenna M. Cedar, Stephanie R. Martin, Laura L. Klein, Helen Feltovich, and Deborah Krakow

CHAPTER 69  Choanal Atresia

Aisling Murphy, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

CHAPTER 52  Hypophosphatasia

CHAPTER 62  Abnormal Hands: Number of Fingers

SECTION ONE  FACIAL ANOMALIES

Amy Flick, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

CHAPTER 51  Osteogenesis Imperfecta

320

Sarah M. Davis, Bob Silver, Helen Feltovich, and Deborah Krakow

Stephanie R. Martin and Jenna M. Cedar

Keri L. Johnson, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

CHAPTER 50  Thanatophoric Dysplasia

CHAPTER 61  Abnormal Hands: Thumbs

Kami Sondrup, Rebecca S. Hulinsky, and Helen Feltovich

Amy Flick, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

CHAPTER 49  Short Rib–Polydactyly Syndrome

SECTION FOUR  FINDINGS—ANOMALOUS DIGITS

CHAPTER 65  Arthrogryposis

Aisling Murphy, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

CHAPTER 48  Asphyxiating Thoracic Dysplasia

317

Kami Sondrup and Helen Feltovich

Alexandra G. Eller, Rebecca S. Hulinsky, and Helen Feltovich

SECTION ONE  OSTEOCHONDRODYSPLASIAS— LETHAL

CHAPTER 47  Atelosteogenesis

CHAPTER 60  Klippel-Feil

CHAPTER 64  Craniosynostosis

PART 7  LIMBS AND BONES: AN OVERVIEW

CHAPTER 46  Achondrogenesis

314

Laura L. Klein, Sarah M. Davis, Michelle Moore, Bob Silver, Helen Feltovich, and Deborah Krakow

PART 6  FIRST-TRIMESTER COMPLICATIONS CHAPTER 44  Abnormal Intrauterine Sac

CHAPTER 59  Caudal Regression Syndrome Cara C. Heuser, Rebecca S. Hulinsky, and G. Marc Jackson

Amar Bhide

CHAPTER 43  Ventriculomegaly

311

SECTION THREE  FINDINGS—SPINAL DEFECTS 234

Tullio Ghi, Elena Contro, Francesca De Musso, and Gianluigi Pilu

CHAPTER 42  Vascular Cerebral Anomalies

308

Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

Elena Contro, Francesca De Musso, Gianluigi Pilu, and Tullio Ghi

CHAPTER 41  Neural Tube Defects: Craniorachischisis and Spina Bifida

306

Deborah Krakow

Gustavo Malinger and Tally Lerman-Sagie

CHAPTER 39  Holoprosencephaly

303

Amy Flick, Helen Feltovich, Lawrence D. Platt, and Deborah Krakow

CHAPTER 56  Chondrodysplasia Punctata

Ants Toi and Gustavo Malinger

CHAPTER 38  Cerebellar Anomalies

300

Cresta Wedel Jones, Jessica Gremp, and Helen Feltovich

CHAPTER 55  Spondyloepiphyseal Dysplasia Congenita

Paolo Volpe, Valentina De Robertis, Maurizio Resta, Mariachiara Resta, and Georgios Rembouskos

CHAPTER 37  Cortical Development and Disorders

SECTION TWO  OSTEOCHONDRODYSPLASIAS— NONLETHAL

CHAPTER 73  Neck Teratoma Bienvenido Puerto, Elisenda Eixarch, and Magdalena Sanz-Cortés

370 373

Contents CHAPTER 74  Fetal Thyroid Masses and Fetal Goiter

378

Magdalena Sanz-Cortés, Susana Fernández, and Bienvenido Puerto

CHAPTER 95  Cardiomyopathy CHAPTER 96  Cardiac Tumors 386

CHAPTER 97  Arrhythmias PART 10  PLACENTA AND CORD 390

Olga Gómez and Josep M. Martinez

CHAPTER 99  Placenta Accreta 398

Olga Gómez and Josep M. Martinez

406

419

CHAPTER 106  Gestational Trophoblastic Disease

CHAPTER 108  Placenta Previa 426

CHAPTER 85  Interruption of the Aortic Arch

429 431

Mar Bennasar and Josep M. Martinez

434

Mar Bennasar and Josep M. Martinez

438

Mar Bennasar and Josep M. Martinez

443

Mar Bennasar and Josep M. Martinez

CHAPTER 110  Fetal Macrosomia CHAPTER 111  Beckwith-Wiedemann Syndrome

505

448

CHAPTER 112  Intrauterine Growth Restriction

449

PART 12  PROCEDURES 520

Joy Vink and Melissa Quinn

523

Hen Yitzhak Sela and Richard L. Berkowitz

528

Joy Vink and Melissa Quinn

Fatima Crispi and Josep M. Martinez

CHAPTER 116  Radiofrequency Ablation

CHAPTER 93  Anomalies of Pulmonary Venous Return

Claudia Mosquera, Russell S. Miller, and Lynn L. Simpson

452

513

Urania Magriples

CHAPTER 115  Chorionic Villus Sampling

Fatima Crispi and Josep M. Martinez

508

France Galerneau

CHAPTER 114  Cordocentesis and Fetal Transfusion

SECTION SIX  OTHER ANOMALIES

Fatima Crispi and Josep M. Martinez

503

PART 11  FETAL GROWTH

CHAPTER 113  Amniocentesis 445

Mar Bennasar and Josep M. Martinez

CHAPTER 92  Atrial Isomerism

499

Stephen F. Thung

SECTION FIVE  CONOTRUNCAL ANOMALIES

CHAPTER 91  Double-Inlet Single Ventricle

497

Shai M. Pri-Paz and Mary E. D’Alton Jaclyn M. Coletta and Mary E. D’Alton

Mar Bennasar and Josep M. Martinez

493

Freddy J. Montero and Karin M. Fuchs

CHAPTER 109  Vasa Praevia

CHAPTER 90  Common Arterial Trunk

490

Jaclyn M. Coletta, Sharyn N. Lewin, and Mary E. D’Alton

Mar Bennasar and Josep M. Martinez

CHAPTER 89  Double-Outlet Right Ventricle

488

Freddy J. Montero and Karin M. Fuchs

CHAPTER 107  Limb–Body Wall Complex 422

Mar Bennasar and Josep M. Martinez

CHAPTER 88  Transposition of Great Arteries

485

Freddy J. Montero and Karin M. Fuchs

Mar Bennasar and Josep M. Martinez

CHAPTER 87  Tetralogy of Fallot

483

Shai M. Pri-Paz and Mary E. D’Alton

CHAPTER 105  Cord Varix

SECTION FOUR  LEFT HEART DEFECTS

CHAPTER 86  Aortic Arch Anomalies

480

Jaclyn M. Coletta, Sharyn N. Lewin, and Mary E. D’Alton

CHAPTER 104  Cord Cysts 414

Olga Gómez and Josep M. Martinez

CHAPTER 84  Aortic Coarctation

CHAPTER 102  Choriocarcinoma CHAPTER 103  Placenta Circumvallata

411

Olga Gómez and Josep M. Martinez

CHAPTER 83  Hypoplastic Left Heart Syndrome and Mitral Atresia

477

Jaclyn M. Coletta and Mary E. D’Alton

Olga Gómez and Josep M. Martinez

CHAPTER 82  Aortic Stenosis and Aortic Atresia

473

Freddy J. Montero and Karin M. Fuchs

CHAPTER 101  Chorioangioma

SECTION THREE  RIGHT HEART DEFECTS

CHAPTER 81  Pulmonary Stenosis and Atresia

470

Shai M. Pri-Paz and Mary E. D’Alton

CHAPTER 100  Amniotic Band Sequence 402

Olga Gómez and Josep M. Martinez

CHAPTER 80  Ebstein Anomaly and Tricuspid Dysplasia

CHAPTER 98  Placental Abruption Shai M. Pri-Paz and Mary E. D’Alton

SECTION TWO  SEPTAL DEFECTS

CHAPTER 79  Tricuspid Atresia

462

Fatima Crispi and Josep M. Martinez

SECTION ONE  NORMAL HEART

CHAPTER 78  Atrioventricular Septal Defect

460

Fatima Crispi and Josep M. Martinez

SECTION SEVEN  ARRHYTHMIAS

PART 9  HEART AND GREAT VESSELS

CHAPTER 77  Ventricular Septal Defect

457

Fatima Crispi and Josep M. Martinez

Rogelio Cruz-Martínez and Bienvenido Puerto

CHAPTER 76  Ultrasound of Normal Fetal Heart

454

Fatima Crispi and Josep M. Martinez

SECTION THREE  OTHER CHAPTER 75  Congenital High Airway Obstruction Syndrome and Bronchial Atresia

CHAPTER 94  Anomalies of Systemic Venous Return

CHAPTER 117  Selective Laser Photocoagulation Amber Samuel, Russell S. Miller, and Lynn L. Simpson

532 536

xix

xx

Contents CHAPTER 118  Fetal Shunts

540

Russell S. Miller and Lynn L. Simpson

CHAPTER 119  Multifetal Pregnancy Reduction

546

CHAPTER 143  Pfeiffer Syndrome CHAPTER 144  Pierre Robin Sequence 551

Dotun Ogunyemi and Michele Eno

CHAPTER 147  Roberts Syndrome 562

579

586 589 592 595

603 606 609 612

Katherine R. Goetzinger and Alison G. Cahill

615

Methodius G. Tuuli and Anthony O. Odibo

617

Ryan E. Longman

Lorie M. Harper and Alison G. Cahill

667

670

Julie A. Gainer

CHAPTER 158  Trisomy 13

674

Asha J. Heard and Erika L. Peterson

CHAPTER 159  Trisomy 18

677

Reshma Parikh and Erika L. Peterson

CHAPTER 160  Trisomy 21

682

Chitra Iyer and Erika L. Peterson

CHAPTER 161  Turner Syndrome (Monosomy X)

687

Marijo Aguilera, Meg Eilers, Mary Hovis, and Yasuko Yamamura

SECTION TWO  DELETION SYNDROMES CHAPTER 162  22q11.2 Deletion Syndrome (DiGeorge, Shprintzen, Velocardiofacial Syndrome)

621

Nikolaos M. Zacharias and Ignatia B. Van den Veyver

624

CHAPTER 163  4p− Deletion Syndrome (Wolf-Hirschhorn Syndrome)

Rachael Bradshaw and Anthony O. Odibo

CHAPTER 140  Oral-Facial-Digital Syndromes

664

SECTION ONE  ANEUPLOIDIES

619

Ryan E. Longman

CHAPTER 139  Noonan Syndrome

CHAPTER 156  Walker-Warburg Syndrome

CHAPTER 157  Triploidy

Rachael Bradshaw and Anthony O. Odibo

CHAPTER 138  Neu-Laxova Syndrome

CHAPTER 155  Vater Association

PART 15  CHROMOSOMES 600

Lorie M. Harper and Alison G. Cahill

CHAPTER 137  Nager Syndrome

661

597

Ryan E. Longman

CHAPTER 136  Multiple Pterygium

CHAPTER 154  Tuberous Sclerosis

Methodius G. Tuuli and Anthony O. Odibo

Lorie M. Harper and Alison G. Cahill

CHAPTER 135  Miller-Dieker Syndrome

658

Lorie M. Harper and Alison G. Cahill

Katherine R. Goetzinger and Alison G. Cahill

CHAPTER 134  Meckel-Gruber Syndrome

CHAPTER 153  Treacher Collins Syndrome

Katherine R. Goetzinger and Alison G. Cahill

Methodius G. Tuuli and Anthony O. Odibo

CHAPTER 133  Larsen Syndrome

656

Rachael Bradshaw and Anthony O. Odibo

Katherine R. Goetzinger and Alison G. Cahill

CHAPTER 132  Klippel-Trénaunay-Weber Syndrome

653

Rachael Bradshaw and Anthony O. Odibo

Rachael Bradshaw and Anthony O. Odibo

CHAPTER 131  Goldenhar Syndrome

CHAPTER 151  Sirenomelia CHAPTER 152  Smith-Lemli-Opitz Syndrome

Ryan E. Longman

CHAPTER 130  Fryns Syndrome

649

Lorie M. Harper and Alison G. Cahill

PART 14  SYNDROMES

CHAPTER 129  Fraser Syndrome

647

Katherine R. Goetzinger and Alison G. Cahill

Michael House and Helen Feltovich

CHAPTER 128  Cystic Fibrosis

645

Methodius G. Tuuli and Anthony O. Odibo

CHAPTER 150  Shprintzen Syndrome (Velocardiofacial Syndrome)

SECTION THREE  PRETERM LABOR

643

Ryan E. Longman

CHAPTER 149  Septooptic Dysplasia 573

Sarah H. Martinez and John C. Hobbins

CHAPTER 127  Cornelia de Lange Syndrome

640

Methodius G. Tuuli and Anthony O. Odibo

CHAPTER 148  Saethre-Chotzen Syndrome 566

Sarah H. Martinez and John C. Hobbins

CHAPTER 126  Charge Syndrome

638

Lorie M. Harper and Alison G. Cahill

Marianne A. Helvey and Helen Feltovich

CHAPTER 125  Cervical Length and Spontaneous Preterm Birth

635

Ryan E. Longman

CHAPTER 146  Prune-Belly Syndrome

SECTION TWO  FETAL FLUID ABNORMALITIES

CHAPTER 124  Immune Fetal Hydrops

632

Lorie M. Harper and Alison G. Cahill

CHAPTER 145  Poland Sequence 557

Joann Acuna, Michele Eno, and Dotun Ogunyemi

CHAPTER 123  Nonimmune Hydrops

629

Rachael Bradshaw and Anthony O. Odibo

SECTION ONE  AMNIOTIC FLUID ABNORMALITIES

CHAPTER 122  Lymphedema and Lymphatic Malformations

CHAPTER 142  Pentalogy of Cantrell Katherine R. Goetzinger and Alison G. Cahill

PART 13  MISCELLANY

CHAPTER 121  Oligohydramnios

627

Methodius G. Tuuli and Anthony O. Odibo

Hen Yitzhak Sela and Richard L. S. Berkowitz

CHAPTER 120  Polyhydramnios

CHAPTER 141  Pena-Shokeir Syndrome

Nikolaos M. Zacharias and Ignatia B. Van den Veyver

693

698

Contents CHAPTER 164  5p− Syndrome (Cri du Chat Syndrome)

CHAPTER 171  Procedures in Multiples 702

Nikolaos M. Zacharias and Ignatia B. Van den Veyver

PART 17  INFECTIONS

PART 16  MULTIPLE GESTATION CHAPTER 165  Chorionicity of Multiple Gestations

CHAPTER 172  Cytomegalovirus 707

Karin M. Fuchs and Mary E. D’Alton

CHAPTER 166  Monochorionic Monoamniotic Twin Gestations

CHAPTER 173  Parvovirus B19 Infection during Pregnancy 710

CHAPTER 174  Rubella Lyndon M. Hill

714

718 721

Lynn L. Simpson and Russell S. Miller

CHAPTER 170  Twin Reversed Arterial Perfusion Sequence Kobina Ghartey, Russell S. Miller, and Lynn L. Simpson

CHAPTER 175  Toxoplasmosis

750 753

Lyndon M. Hill

Karin M. Fuchs and Mary E. D’Alton

CHAPTER 169  Twin-Twin Transfusion Syndrome

746

Unzila A. Nayeri and Mert O. Bahtiyar

CHAPTER 167  Monochorionic Diamniotic Twin Gestations Karin M. Fuchs and Mary E. D’Alton

739

Lyndon M. Hill

Karin M. Fuchs and Mary E. D’Alton

CHAPTER 168  Dichorionic Diamniotic Twin Gestations

736

Joy Vink

CHAPTER 176  Herpes Simplex Virus CHAPTER 177  Varicella

761

Lyndon M. Hill

CHAPTER 178  Congenital Syphilis 732

758

Lyndon M. Hill

764

Christina M. Duzyj

Index

771

xxi

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Video Contents CHAPTER 24: ABDOMINAL CYSTS

VIDEO 76-3: Normal Ductal Arch

VIDEO 24-1: Partial Resection of Ovarian Cyst in a Neonate

VIDEO 76-4: Normal Aortic Arch

VIDEO 24-2: Endoscopic Retrieval of a Detached Right Ovary with Hemorrhagic Cyst in a Neonate

VIDEO 76-6: Drainage of the Superior and Inferior Vena Cava into the Right Atrium

VIDEO 24-3: Endoscopic Resection of Gastric Duplication in a Neonate

VIDEO 76-7: Presence of a Normal Ductus Venosus

VIDEO 24-4: Normal Fetal Small Bowel Mesentery CHAPTER 27: CONGENITAL DIAPHRAGMATIC HERNIA VIDEO 27-1: Ultrasound of Isolated Left-Sided Congenital Diaphragmatic Hernia VIDEO 27-2: Fetoscopic Removal of Tracheal Balloon in a Fetus with Isolated Congenital Diaphragmatic Hernia CHAPTER 28: HEPATIC ANOMALIES VIDEO 28-1: Gray Scale Imaging of Hepatic Hemangioma VIDEO 28-2: Power Doppler Imaging of a Hepatic Hemangioma CHAPTER 32: FETAL SPLEEN VIDEO 32-1: Left-Isomerism and Atrioventricular Septal Defect: Transverse View VIDEO 32-2: Left-Isomerism and Atrioventricular Septal Defect: Sagittal View CHAPTER 67: CLEFT LIP/PALATE VIDEO 67-1: 3D Multiplanar Mode of a Fetus with a Bilateral Cleft Lip and Palate CHAPTER 70: MICROGNATHIA AND RETROGNATHIA VIDEO 70-1: Agnathia VIDEO 70-2: 3D Reconstruction of a Fetus with Micrognathia VIDEO 70-3: 4D Reconstruction of a Fetus with Micrognathia CHAPTER 71: FACIAL DYSMORPHISM VIDEO 71-1: Otocephaly and Micrognathia CHAPTER 73: NECK TERATOMA VIDEO 73-1: Unilocular, Encapsulated Complex Tumor of Fetal Neck

VIDEO 76-5: Normal Aortic Arch

VIDEO 76-8: Normal Heart Evaluated by Transvaginal Route VIDEO 76-9: Transposition of Great Arteries VIDEO 76-10: Examination of a Normal Heart by the Five Short-Axis Views CHAPTER 77: VENTRICULAR SEPTAL DEFECT VIDEO 77-1: Small Apical VSD VIDEO 77-2: Large Perimembranous VSD CHAPTER 78: ATRIOVENTRICULAR SEPTAL DEFECT VIDEO 78-1: Unbalanced Complete AVSD VIDEO 78-2: Unbalanced Complete AVSD VIDEO 78-3: Incomplete AVSD VIDEO 78-4: Incomplete AVSD CHAPTER 79: TRICUSPID ATRESIA VIDEO 79-1: Gray Scale Imaging of Tricuspid Atresia with Ventricular Septal Defect VIDEO 79-2: Gray Scale and Color Doppler Imaging of Tricuspid Atresia with Ventricular Septal Defect VIDEO 79-3: Tricuspid Atresia Without VSD CHAPTER 80: EBSTEIN ANOMALY AND TRICUSPID DYSPLASIA VIDEO 80-1: Gray Scale and Color Doppler Images of Ebstein Anomaly of Tricuspid Valve VIDEO 80-2: Ebstein Anomaly of Tricuspid Valve CHAPTER 81: PULMONARY STENOSIS AND ATRESIA VIDEO 81-1: Fetus with Pulmonary Stenosis and Intact Interventricular Septum VIDEO 81-2: Pulmonic Stenosis CHAPTER 82: AORTIC STENOSIS AND AORTIC ATRESIA

VIDEO 73-2: Primarily Solid Neck Tumor

VIDEO 82-1: Dilated Left Ventricle in a Fetus with Aortic Stenosis

VIDEO 73-3: Neck Teratoma

VIDEO 82-2: Fetal Aortic Valvuloplasty

CHAPTER 76: ULTRASOUND OF NORMAL FETAL HEART VIDEO 76-1: Normal Drainage of Superior Pulmonary Veins to the Left Atrium VIDEO 76-2: Normal View of Right Ventricle, Pulmonary Valve, and Ductal Arch

CHAPTER 83: HYPOPLASTIC LEFT HEART SYNDROME AND MITRAL ATRESIA VIDEO 83-1: HLHS in a Case of Aortic Atresia CHAPTER 84: AORTIC COARCTATION VIDEO 84-1: Fetal Aortic Coarctation

xxiii

xxiv Video Contents CHAPTER 85: INTERRUPTION OF THE AORTIC ARCH VIDEO 85-1: Fetus with Interrupted Aortic Arch CHAPTER 86: AORTIC ARCH ANOMALIES VIDEO 86-1: Three Vessels - Trachea View with Ductus Arteriosus and Aortic Isthmus Converging VIDEO 86-2: Right-Sided Aortic Arch with Vascular Sling Behind the Trachea CHAPTER 87: TETRALOGY OF FALLOT VIDEO 87-1: Tetralogy of Fallot VIDEO 87-2: Tetralogy of Fallot/Absent Pulmonary Valve Syndrome CHAPTER 88: TRANSPOSITION OF GREAT ARTERIES VIDEO 88-1: Transposition of the Great Arteries and an Intact Ventricular Septum VIDEO 88-2: Corrected Transposition of the Great Vessels CHAPTER 89: DOUBLE-OUTLET RIGHT VENTRICLE VIDEO 89-1: DORV with Subpulmonary VSD CHAPTER 90: COMMON ARTERIAL TRUNK VIDEO 90-1: Apical View of Heart with Truncus Arteriosus CHAPTER 91: DOUBLE-INLET SINGLE VENTRICLE VIDEO 91-1: 4 Chamber and Outflow Views of Single Ventricle with Transposition CHAPTER 92: ATRIAL ISOMERISM VIDEO 92-1: Sweep of Abdomen and Thorax Showing Stomach on One Side and Apex of the Heart on the Opposite Side

VIDEO 92-2: Stomach on Right Side and Apex of the Heart on the Opposite Side CHAPTER 93: ANOMALIES OF PULMONARY VENOUS RETURN VIDEO 93-1: Anomalous Pulmonary Venous Return CHAPTER 94: ANOMALIES OF SYSTEMIC VENOUS RETURN VIDEO 94-1: Severe Cardiomegaly CHAPTER 95: CARDIOMYOPATHY VIDEO 95-1: Cardiomegaly with Dilated Miocardiopathy VIDEO 95-2: Non-Compacted Cardiomyopathy CHAPTER 96: CARDIAC TUMORS VIDEO 96-1: Multiple Rhabdomyomata VIDEO 96-2: Huge Pericardial Teratoma CHAPTER 97: ARRHYTHMIAS VIDEO 97-1: Fetal Tachycardia VIDEO 97-2: Fetal Tachycardia VIDEO 97-3: Fetal Atrial Flutter with Variable Block VIDEO 97-4: Fetal Complete Heart Block CHAPTER 117: SELECTIVE LASER PHOTOCOAGULATION VIDEO 117-1: Fetoscopic Selective Laser Photocoagulation VIDEO 117-2: Fetoscopic View of Recipient Twin within a Polyhydramniotic Sac VIDEO 117-3: Fetoscopic View of a “Stuck” Donor Twin

PART

1

Atlas of Selected Normal Images CHAPTER

1

Atlas of Selected Normal Images

Mert O. Bahtiyar, Unzila A. Nayeri, and Wendy K. Shaffer

FIGURE 1-1.  The crown-rump length is a measurement of the length of human fetuses from the top of the crown to the bottom of the rump. It is used to estimate gestational age.

FIGURE 1-2.  Transvaginal ultrasound (US) and sagittal long-axis view of the endocervical canal. Both the internal os and the external os are well visualized. The cervical length is measured from the internal os to the external os along the endocervical canal.

FIGURE 1-3.  Sagittal view of the uterus with an anterior placenta.

FIGURE 1-4.  Sagittal view of the uterus showing a posterior placenta.

1

2

PART 1  ATLAS OF SELECTED NORMAL IMAGES

FIGURE 1-5.  Normal umbilical cord insertion into the placenta.

FIGURE 1-7.  Transverse axial view of the umbilical cord. The umbilical cord is composed of a vein and two smaller arteries.

FIGURE 1-9.  Four-chamber view obtained with a transverse axial view through the fetal thorax. This view provides information on the size of the heart and its chambers; the pulmonary venous connections to the atrial segment; the morphology of the ventricles; the type of atrioventricular (AV) connection; and the integrity of the atrial, AV, and ventricular septa.

FIGURE 1-6.  Fetal umbilical cord insertion site. The umbilical arteries emerge caudally—originating at the iliac arteries and coursing along the margin of the urinary bladder. The umbilical vein proceeds cephalad and joins the fetal portal circulation.

FIGURE 1-8.  Transverse view of the fetal abdomen and the umbilical cord insertion site showing integrity of the central abdominal wall.

FIGURE 1-10.  Four-chamber view with the fetus in the left decubitus position. The interventricular septum is clearly visualized and appears intact.

CHAPTER 1  Atlas of Selected Normal Images

FIGURE 1-11.  The left ventricular outflow tract (LVOT) view is initially obtained with the ventricular septum horizontal to the transducer in the four-chamber view followed by clockwise or counterclockwise rotation of  the transducer. The LVOT view also shows the left ventricular inlet with the anterior leaflet of the mitral valve demarcating both the inlet and the outflow tract.

FIGURE 1-13.  Sagittal view of the aortic arch. The aortic arch gives rise to the right innominate or brachiocephalic artery, the left common carotid artery, and the left subclavian artery.

FIGURE 1-15.  Sagittal view of the inferior vena cava and superior vena cava, which are draining into the right atrium.

FIGURE 1-12.  The right ventricular outflow tract (RVOT) view is obtained by starting from the four-chamber view and sliding the transducer toward the fetal head. The RVOT leads to the main pulmonary artery traveling superiorly and posteriorly.

FIGURE 1-14.  Parasagittal view of the ductal arch. The ductal arch appears as a hockey stick–type structure with no branching head vessels.

FIGURE 1-16.  Parasagittal view of the fetal aorta and inferior vena cava.

3

4

PART 1  ATLAS OF SELECTED NORMAL IMAGES

FIGURE 1-17.  Sagittal view of the corpus callosum. Power Doppler shows branching of the anterior cerebral artery, which gives rise to the pericallosal artery.

FIGURE 1-19.  Axial sonogram through the lateral ventricles of a secondtrimester fetus showing the choroid plexus.

FIGURE 1-21.  Transverse intracranial view at the level of the ventricles. The atrium of the lateral ventricle is measured at the level of the choroid plexus. An atrial measurement of less than 10 mm is considered normal.

FIGURE 1-18.  View of the posterior fossa in the second trimester. The shape and size of the cerebellum, in addition to the cisterna magna and nuchal fold, are assessed in this view. The cavum septi pellucidi is seen anteriorly.

FIGURE 1-20.  Axial sonogram through the lateral ventricles of a firsttrimester fetus showing the choroid plexus.

FIGURE 1-22.  Transcerebellar view of the fetal head showing the posterior fossa. The cerebellum, cisterna magna, and nuchal fold are measured in this view.

CHAPTER 1  Atlas of Selected Normal Images

FIGURE 1-23.  The transcerebellar view of the fetal head allows measurement of the nuchal fold. To obtain this measurement, calipers are placed at the outer edge of the occipital bone and the outer skin edge.

FIGURE 1-25.  Transverse view of the fetal head at the level of the biparietal diameter (BPD). To obtain the BPD, the view must include the third ventricle, thalamus, and cavum septi pellucidi. The measurements are obtained by placing cursors at the outer edge of one calvarial wall to the inner edge of the opposite calvarial wall. The head circumference is measured by placing the cursors at the outer edges of the near and far calvarial walls.

FIGURE 1-24.  Transcerebellar view of the fetal head showing the posterior fossa, which consists of the cerebellum and cisterna magna.

FIGURE 1-26.  Midsagittal view of the fetal face showing the profile. The nasal bone, mandible, and maxilla are seen along with the upper and lower lips.

Nose/Lips

FIGURE 1-28.  Coronal view of the anterior face showing the fetal tongue. FIGURE 1-27.  Coronal view of the anterior face displaying the tip of the nose, nostrils, and upper lip shows the integrity of the upper lip.

5

6

PART 1  ATLAS OF SELECTED NORMAL IMAGES

FIGURE 1-29.  Axial view of the fetal head showing the fetal palate as a semicircular echogenic structure.

FIGURE 1-30.  Coronal view of the fetal face showing the fetal orbits.

Ears Ear

A

B FIGURE 1-31.  Parasagittal (A) and axial (B) views of the fetal ear.

FIGURE 1-32.  Sagittal view of the fetal diaphragm. The fetal diaphragm is seen as a curvilinear hypoechoic structure separating the abdominal and thoracic cavities.

FIGURE 1-33.  Sagittal view of the fetal lung and diaphragm. The lung is slightly more echogenic than the liver. The hypoechoic diaphragm is seen separating these structures.

CHAPTER 1  Atlas of Selected Normal Images

FIGURE 1-34.  Transverse view through the fetal abdomen. The fetal gallbladder appears as a teardrop-shaped, fluid-filled structure between 7 and 15 weeks’ gestation. A normal gallbladder can assume various shapes and sizes during pregnancy.

FIGURE 1-36.  Transverse view of the fetal abdomen showing the fluidfilled fetal stomach.

FIGURE 1-38.  Coronal view of the renal arteries supplying both fetal kidneys.

FIGURE 1-35.  Transverse view of the fetal abdomen. To measure the abdominal circumference accurately, the stomach and umbilical segment of the left portal vein should be visualized. Cursors are placed to fit the edges of the skin.

FIGURE 1-37.  Coronal view of the fetal kidneys.

FIGURE 1-39.  Transverse view of the fetal kidneys. The fetal kidneys are visualized as circular structures adjacent to the lumbar spinal ossification centers bilaterally.

7

8

PART 1  ATLAS OF SELECTED NORMAL IMAGES

FIGURE 1-40.  Sagittal view through either the right flank or the left flank. The triangle-shaped adrenal gland is seen adjacent to the superior pole of the kidney.

FIGURE 1-41.  Sagittal view of the fetal spine at the level of the lumbosacral spine. The overlying skin is intact and helps to rule out large neural tube defects.

FIGURE 1-42.  Sagittal view of the fetal spine. FIGURE 1-43.  Coronal view of the fetal spine shows the parallel vertebral columns and ossification centers.

FIGURE 1-44.  Coronal view of the female external genitalia. The labia majora and labia minora are clearly identified.

FIGURE 1-45.  Sonogram of the fetal penis. The penis and scrotum are clearly visualized.

CHAPTER 1  Atlas of Selected Normal Images

FIGURE 1-46.  Longitudinal view of the fetal humerus. Measurements are taken from each end of the diaphysis and include only the ossified portion of the bone.

FIGURE 1-48.  Longitudinal view of the fetal forearm. The ulna measures longer than the radius as it extends farther at a more proximal level.

Tibia 3.32 cm 22w2d

FIGURE 1-50.  Longitudinal view of the fetal lower leg. The tibia is the more medial bone and is longer than the fibula at the proximal level.

FIGURE 1-47.  Longitudinal view of the fetal forearm. Although the ulna and radius end at the same distal level, the ulna is longer than the radius proximally.

FIGURE 1-49.  Longitudinal view of the fetal femur. Measurements are taken from each end of the diaphysis. Only the ossified portion of the bone is measured.

FIGURE 1-51.  Longitudinal view of the fetal lower leg. The tibia is more medial and is longer than the fibula proximally.

9

10

PART 1  ATLAS OF SELECTED NORMAL IMAGES

FIGURE 1-52.  Coronal view of the fetal hand showing the bony details of the developing phalanges.

Toes

Foot

A

B

FIGURE 1-53.  Transverse axial view of a fetal foot (A) and fetal toes (B) where the proximal phalangeal ossification centers and metatarsal ossification centers are also visualized.

FIGURE 1-54.  The middle cerebral artery, a major branch of the circle of Willis, plays an important role in fetal adaptation to oxygenation. In the setting of fetal hypoxia, blood flow is centrally redistributed with increased blood flow to the brain. In a transverse view of the fetal head, the middle cerebral arteries are seen in the long axis with their course parallel to the US beam. The measured velocity is most accurate if measured at the proximal portion of the vessel adjacent to its origin at the circle of Willis.

CHAPTER 1  Atlas of Selected Normal Images

FIGURE 1-55.  Umbilical artery Doppler velocimetry, which is obtained from a floating segment of the umbilical cord, reflects placental impedance. Normally, the umbilical arterial circulation is a low-impedance circulation.

FIGURE 1-56.  The fetal ductus venosus shunts most of the blood flow from the umbilical vein directly to the inferior vena cava, bypassing the fetal liver. Blood flow through the ductus venosus is used to predict compromised states in fetuses with growth restriction.

11

12

PART 1  ATLAS OF SELECTED NORMAL IMAGES

FIGURE 1-57.  Doppler velocimetry of the uterine artery is measured as the vessel crosses over the hypogastric artery and vein before entering the uterus at the uterine-cervical junction. In a normal state, uterine vasculature displays low impedance. The presence of a notch in the waveform and an increase in impedance characterizes an abnormal uterine circulation and may be associated with complications such as growth restriction, preeclampsia, and preterm delivery.

FIGURE 1-58.  Umbilical artery Doppler velocimetry (UADV) in the third trimester. Normally, an increase in end-diastolic flow is seen with advancing gestation. UADV is commonly used to assess the intrauterine and placental environment in the setting of intrauterine growth restriction and oligohydramnios.

PART

2

Thorax CHAPTER

2 

Congenital Cystic Adenomatoid Malformation of the Lung Dan Vadim Valsky, Rogelio Cruz-Martinez, and Simcha Yagel INTRODUCTION Congenital cystic adenomatous malformation of the lung (CCAM) is a developmental lung malformation; it is the most common lung pathology that is diagnosed prenatally. The lesions are intrapulmonary and have a typical hyper­ echoic appearance on ultrasound (US), with or without cystic components. Both sides of the lung, both sexes, and all races are equally affected. Most fetuses with CCAM are detected antenatally and have a good outcome, but appro­ priate identification and ongoing surveillance are required because of the unpredictability of growth patterns for CCAM lesions. This chapter discusses the perinatal man­ agement of CCAM, including diagnostic methods and management strategies.

DISEASE Definition CCAM is a developmental, nonhereditary, usually mixed (solid and cystic) lung mass consisting of abnormal hamar­ tomatous or dysplastic lung tissue and bronchoalveolar structures thought to result from abnormal branching of the immature bronchioles during early stages of lung morphogenesis.1

Prevalence and Epidemiology CCAM is the most common fetal hyperechoic lung lesion and accounts for 50% to 75% of detected fetal lung abnor­ malities.2,3 The precise prevalence of CCAM is unknown for several reasons. Prenatal diagnosis has dramatically increased as a result of improvement of US equipment in recent years. Understanding of fetal lung lesions has also evolved. These lesions may display dramatic changes during pregnancy with spontaneous regression and total resolu­ tion in more than half of cases.4,5 Postnatal studies probably underestimate the real incidence of lung lesions, with a commonly quoted incidence of 1 : 25,000 to 1 : 35,000.4 In prenatal studies performed in nonreferred populations, an incidence of 1 : 4000 to 1 : 6000 has been reported.6,7

Etiology and Pathophysiology CCAM is characterized by lack of normal alveoli and origi­ nates from a dysplastic overgrowth and cystic dilatation of terminal bronchioles with various types of epithelial lining.

It usually manifests as a lung mass involving one pulmonary lobe. Blood supply to CCAM is classically from pulmonary vessels, but sometimes the masses may have a systemic vascular supply, similar to bronchopulmonary sequestra­ tion (BPS), and these are termed hybrid CCAM-BPS lesions. CCAM may have a mainly solid, mainly cystic, or mixed appearance. Stocker et al.8 described three types of lung lesions based on cyst diameter, ranging from microscopic to lesions greater than 10 cm, and histologic features: • Type I—macrocystic CCAM lesions—are characterized by single or multiple cysts greater than 2 cm in diameter, lined by ciliated pseudostratified columnar epithelium. These represent nearly half of CCAM lesions in postnatal series. They frequently cause mediastinal compression, are rarely associated with other anomalies, and generally have a good prognosis.9 • Type II lesions account for up to 40% of CCAM cases; are single or multiple cysts less than 2 cm in diameter; and are lined with mixed ciliary, columnar, and cuboidal epi­ thelium with a thin underlying fibromuscular layer.9 • Type III lesions are microcystic, predominantly solid lesions, with small cysts (5 mm

7200–10,800

Transvaginal Ultrasound Findings

Level of Beta-hCG (mIU/mL)

Modified from Paspulati RM, Bhatt S, Nour SG: Sonographic evaluation of first-trimester bleeding. Radiol Clin North Am. 2004;42:297-314; and Bree R, Edwards M, Beohm-Velez M, et al: Transvaginal sonography in the evaluation of normal early pregnancy: correlation with hCG level. AJR Am J Roentgenol. 1989;153:75-79.

DECIDUA CENTRAL EM ECHO ECCENTRIC GEST SAC

FIGURE 44-2.  Coronal view of uterus with a pregnancy of unknown location. The endometrium is thick, lush, and echogenic and compatible with an early ongoing intrauterine gestation, depending on beta-hCG level.

endometrium that represents the fluid-filled chorionic cavity (Figure 44-3). This sac already contains the amnion, trilaminar embryonic disk, and yolk sac, but these structures are too small to be seen. The echogenic rim around it is produced by the developing chorionic villi involving maternal decidual tissue and is termed a decidual reaction. The double decidual sign appears as two echogenic rings around the intrauterine fluid collection (see Figure 44-3). Depending on US equipment employed and on the observer, the gestational sac can be measured when it is 2 to 3 mm, but it is normally seen as 5 mm in most settings, typical of 5 weeks’ gestational age.9 In terms of dating, gestational sac measurements should not include the decidual reaction.10 Gestational age can be estimated by using the mean sac diameter (MSD), derived from averaging three orthogonal sac diameter measurements and then using that average in nomograms that correlate to gestational age; most equipment has such nomgrams built into their software for convenience. A

FIGURE 44-3.  Normal early gestational sac with double decidual sign or reaction.

simple way of estimating gestational age from the sac size is to add 30 to the sac diameter in millimeters to get gestational age in days: Menstrual age (days) = MSD (mm) + 30.11 Gestational sac is not as accurate as embryonic size measurements (described subsequently) in estimating gestational age. Once the embryo is detected, it should be used for dating. The gestational sac grows approximately 1 mm/d, so there is little utility in repeating US scans for viability check or dating purposes sooner than 4 days after the prior scan. An actual IUP is not confirmed until a yolk sac is seen, with exception of findings consistent with an EPF (see later). A fluid collection (i.e., blood) in the endometrial cavity of a woman with ectopic pregnancy is called a pseudosac; it can be mistaken for an intrauterine gestational sac. Features such as midline location, elongated shape, and absence of gestational reaction all increase the level of suspicion. A presumed pseudosac is not diagnostic of ectopic pregnancy because of a high false-positive rate.12

CHAPTER 44  Abnormal Intrauterine Sac 265

FIGURE 44-4.  Normal early gestational sac with yolk sac.

FIGURE 44-6.  Early CRL of 18 mm.

‘C’ SHAPED TADPOLE LIKE

CRL

A

FIGURE 44-7.  Transvaginal US depicts C-shaped, tadpolelike embryonic structure measuring 13 mm at 55 days LMP. Amnion is visible.

B FIGURE 44-5.  A, Normal early gestational sac with yolk sac and fetal pole at 6 weeks’ gestation. B, Documentation of fetal cardiac activity on Doppler.

yolk sac  The yolk sac is round with a sonolucent center and echogenic periphery (Figure 44-4). With high-frequency equipment, it can usually be seen by the time the gestational sac reaches 5 mm, but it should be seen when the gestational sac is about 8 mm.13 Given individual variability, this sac size should not be used as a cutoff, and a follow-up US scan and correlation with beta-hCG should be done. The yolk sac continues to grow up to 6 mm by 10 weeks’ gestation and then migrates to the periphery of the chorionic cavity, becoming undetectable by the end of the first trimester.14 The gestational sac size at which the yolk sac can be detected varies depending on the transducer frequency, but

MSD of 13 mm without a yolk sac is diagnostic of a nonviable gestation.15 crown-rump length  The embryonic disk (also referred to as a fetal pole) is a thickened region along the outermost part of the yolk sac (Figures 44-5 and 44-6). It becomes visible when it is 1 to 2 mm in length.16 An embryo is usually seen by the time MSD reaches 18 mm.17 Crown-rump length (CRL) is the longest linear measurement of the embryo. It is the preferred dating measurement up to 14 weeks’ gestation. However, before 18 mm, a true “crown” and “rump” do not exist, and measurements are taken along the long axis of the embryo (the greatest measurement should be used). As the embryo grows, the rostral neuropore closes and develops into the forebrain, and the caudal neuropore elongates into a tail (Figure 44-7). With further development, the tail regresses, the head unfolds from a flexed position, and limb buds develop into hands and feet. By 10 weeks’ gestation, the “fetus” is recognizable as human (Figure 44-8).18 Amnion can also be visible on US. In early pregnancy, the embryo fills the amnion (see Figure 44-7), which then fuses with the chorion, usually at 12 to 16 weeks’ gestation. Similar to MSD, most modern US machines contain formulas to calculate gestational age from CRL.19 For embryos between 1 mm and 25 mm, the Goldstein formula can be

266 PART 6  FIRST-TRIMESTER COMPLICATIONS PREGNANCY FAILURE 7 WEEKS

FIGURE 44-9.  Anembryonic gestation. FIGURE 44-8.  IUP at 10 weeks’ gestation.

TABLE 44-4.  Ultrasound Criteria of Early Pregnancy Failure MSD of 13 mm and no yolk sac MSD of 18 mm and no embryonic pole Embryo of 4 mm and no cardiac activity Failure of gestational sac or embryo to grow at expected rate of 1 mm/d Loss of previously present cardiac activity Data from Goldstein ST: Early pregnancy: normal and abnormal. Semin Reprod Med. 2008;26:277-283; and Perriera L, Reves MF: Ultrasound criteria for diagnosis of early pregnancy failure. Semin Reprod Med. 2008;26:373-382.

used for dating as a simple equation: Gestational age from LMP (days) = Embryonic size (mm) + 42 (SD ± 3 days).16 The range of error of CRL is ± 5 days up to 12 weeks; in other words, if the estimated date of confinement differs from the calculation based on LMP by more than 5 days, US should be used for dating. As the embryo grows, some authors suggest using biparietal diameter and head circumference later in the first trimester, but they are more difficult to measure early in pregnancy, so their use is uncommon.20 cardiac activity  The ability to see cardiac activity varies with equipment and anatomy, but several studies of normal pregnancies have shown that cardiac activity should be routinely seen by an embryonic size of 4 mm.21 The heart rate can be calculated via M-mode or spectral Doppler; these modalities should be used for the minimal possible time because of potential bioeffects owing to concentration of energy on the embryo. The primitive heart at this early stage is very prominent and can often be detected before the embryo is seen separate from the adjacent yolk sac. In addition to the presence of cardiac activity, the heart rate itself can be predictive of EPF. The embryonic heart rate increases in early gestation; the mean rate is approximately 110 beats/min in the 6th week and generally between 140 beats/min and 150 beats/min by the 7th week. Bradycardia is defined as a fetal heart rate less than 100 beats/ min before 6 weeks and less than 120 beats/min between 6 weeks and 7 weeks.22

FIGURE 44-10.  Flat irregular sac with thin, poorly developed gestational reaction.

ultrasound findings of early pregnancy failure  An American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin on US in pregnancy stated that an embryo should be present by the time the gestational sac is 20 mm, and cardiac activity should be present by the time the embryo is 5 mm; if either is not present, US should be repeated to confirm viability.7 More detailed US criteria of EPF are listed in Table 44-4. These criteria are the most conservative cutoffs derived from the studies that found no viable pregnancies above those numbers, showing high specificity for the diagnosis of EPF. It is important to keep in mind the difference between how early a certain structure can be seen (threshold level) and at what point the lack of this structure is indicative of a nonviable pregnancy, allowing for variability in biology, equipment, and measurement error.18 Figure 44-9 shows an anembryonic intrauterine gestation, previously considered a blighted ovum. A large empty sac might be a result of embryonic demise and resorption that has occurred before presentation. The gestational sac might also appear as flat and irregular in shape with thin, poorly developed trophoblastic decidual reaction, defined as less than 2 mm in thickness (Figure 44-10); the extent of echogenic decidual reaction correlates with beta-hCG levels but is not pathognomonic for EPF. Gestational sac

CHAPTER 44  Abnormal Intrauterine Sac 267 shape may also change from round to oval, elongated, and irregular on follow-up US scans. Figure 44-11 shows abnormal yolk sac morphology, a nonspecific sign of EPF. In abnormal pregnancies, the yolk sac may be enlarged, irregular, or sometimes described as “floating.” This appearance is likely related to a hydropic change. Empty amnion sign is the absence of an embryo within the amnion and may be helpful in diagnosis of EPF because the embryo is normally visualized before the amnion (Figure 44-12).23 If the gestational sac is large enough that an embryo is expected (i.e., 18 mm MSD), and the amnion is visible but not the embryo, that is a reliable sign of EPF. Embryonic demise refers to a pregnancy with the death of an embryo, the diagnosis of which can be established by either its failure to grow over time or the absence of cardiac activity above the threshold sizes noted earlier (Figure 44-13).24 A gestational sac that grows less

than 1 mm/d and a small gestational sac or first-trimester oligohydramnios (measured as the difference between MSD and CRL 6 mm), which in severe cases can lead to subvalvular aortic stenosis. Generally, the prognosis of infants with hypertrophy associated with maternal diabetes or twin transfusion syndrome is reasonably good, whereas progression after birth is often the rule in primary forms of hypertrophic cardiomyopathy.5 • Restrictive cardiomyopathy is very rare and characterized by primary subendocardial fibroelastosis leading to hyperechogenic endocardium.

FIGURE 95-3.  Hypertrophic cardiomyopathy with increased thickness of the septum and the ventricular walls in a fetus from a diabetic mother.

FIGURE 95-4.  Ventricular noncompacted cardiomyopathy with prominent trabeculations with deep myocardial recesses clearly shown.

• Ventricular noncompaction is a more recently described cardiomyopathy characterized by numerous prominent trabeculations with deep myocardial recesses caused by disturbance of the myocardial compaction process during fetal endomyocardial morphogenesis6–8 (Figure 95-4, Video 95-2). It is rarely described in fetal and neonatal patients with variable manifestations, including fetal hydrops, left ventricular enlargement, increased wall thickness, and decreased ejection fraction.6–8 All forms of cardiomyopathy are characterized by a stiffer myocardium, with a reduced contractility and compliance, eventually leading to cardiac dysfunction and decreased cardiac output.1–6 Ventricular dysfunction may be progressive in utero and after birth, but anecdotal cases of improvement or normalization of left ventricular function have been reported for all forms of cardiomyopathy.1–6 The outcome is poorer in the presence of fetal hydrops, significant atrioventricular valve regurgitation, reversed atrial flow in ductus venosus or increased pulsatility in the umbilical vein, earlier gestational age at diagnosis, and signs of diastolic dysfunction.

CHAPTER 95  Cardiomyopathy 459

Manifestations of Disease

WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW

Clinical Presentation The clinical presentation includes cardiomegaly, valvular insufficiency, myocardial hypertrophy or hyperechogenicity, heart failure, and fetal hydrops.1–6

The presence of cardiomegaly or fetal hydrops warrants comprehensive echocardiography to rule out cardiomyopathies.

Imaging Technique and Findings Ultrasound Ultrasound (US) signs include cardiomegaly (see Figure 95-1), hypertrophic or hyperechogenic myocardium, cardiac dilatation, tricuspid and mitral insufficiency (see Figure 95-2), pericardial effusion, fetal hydrops, and different degrees of systolic and diastolic dysfunction.1–6 Specifically, fetuses from diabetic mothers should be evaluated for septal asymmetric hypertrophy by measuring septal thickness in a transverse view, using M-mode measurement taken just below the atrioventricular valves at end diastole, and aortic peak velocity.1

KEY POINTS

Magnetic Resonance Imaging Magnetic resonance imaging (MRI) may be helpful to provide prognostic information for prenatal counseling, although prenatal data for comparison are limited.9 CLASSIC SIGNS Cardiomegaly Myocardial hypertrophy or hyperechogenicity Fetal hydrops

SYNOPSIS OF TREATMENT OPTIONS Prenatal A poor outcome is observed in most cases.1–6 Only a few therapeutic options are available in cases with a known etiology (e.g., tachycardia,2 anemia, twin transfusion syndrome3). The prognosis mainly depends on the underlying cause, with fetal hydrops and reversed atrial flow in ductus venosus as poor prognosis signs. Asymmetric septal hypertrophy in fetuses from diabetic mothers usually regresses spontaneously by the 1st year of age, and few cases require treatment.1 However, there is concern about the long-term outcome of these children. Improved maternal glycemic control can help reduce severe hypertrophy prenatally.1

Postnatal Postnatal treatment depends on the underlying cause and the degree of ventricular dysfunction. If no treatable cause is present, management focuses on ameliorating symptoms. Heart transplantation is the only long-term option in many cases.5 Genetic evaluation for metabolic diseases may help identify the etiology.

• Cardiomyopathy • Most

exhibits a great variability of forms.

cases have a very poor outcome.

• Fetuses

from diabetic mothers should be evaluated for septal asymmetric hypertrophy.

▶ SUGGESTED READING Allan L, Hornberger L, Sharland G. Textbook of fetal cardiology. London: Greenwich Medical Media Ltd; 2000. Mongiovì M, Fesslova V, Fazio G, et al. Diagnosis and prognosis of fetal cardiomyopathies: a review. Curr Pharm Des. 2010;16:2929-2934. Paladini D, Volpe P. Ultrasound of congenital fetal anomalies: differential diagnosis and prognostic indicators. London: Informa Health Care; 2007. Yagel S, Silverman NH, Gembruch U. Fetal cardiology. Series in Maternal Fetal Medicine. New York: Informa Health Care; 2009.

REFERENCES 1. Russell NE, Foley M, Kinsley BT, et al. Effect of pregestational diabetes mellitus on fetal cardiac function and structure. Am J Obstet Gynecol. 2008;199:312.e1-7. 2. Cornette J, ten Harkel AD, Steegers EA. Fetal dilated cardiomyopathy caused by persistent junctional reciprocating tachycardia. Ultrasound Obstet Gynecol. 2009;33:595-598. 3. Michelfelder E, Gottliebson W, Border W, et al. Early manifestations and spectrum of recipient twin cardiomyopathy in twin-twin transfusion syndrome: relation to Quintero stage. Ultrasound Obstet Gynecol. 2007;30:965-971. 4. Muñoz-Abellana B, Hernandez-Andrade E, Figueroa-Diesel H, et al. Hypertrophic cardiomyopathy-like changes in monochorionic twin pregnancies with selective intrauterine growth restriction and intermittent absent/reversed end-diastolic flow in the umbilical artery. Ultrasound Obstet Gynecol. 2007;30:977-982. 5. Prandstraller D, Leone O, Biagini E, et al. Prenatal echographic recognition of hypertrophic cardiomyopathy leading to heart transplantation in the newborn. Eur Heart J. 2008;29:845. 6. Richards A, Mao YC, Dobson NR. Left ventricular noncompaction: a rare cause of hydrops fetalis. Pediatr Cardiol. 2009;30:985-988. 7. Cook AL, Cnota JF. Fetal echocardiographic imaging of ventricular noncompaction. Cardiol Young. 2008;18:351-352. 8. Menon SC, O’Leary PW, Wright GB, et al. Fetal and neonatal presentation of noncompacted ventricular myocardium: expanding the clinical spectrum. J Am Soc Echocardiogr. 2007;20:1344-1350. 9. Whitham JK, Hasan BS, Schamberger MS, et al. Use of cardiac magnetic resonance imaging to determine myocardial viability in an infant with in utero septal myocardial infarction and ventricular noncompaction. Pediatr Cardiol. 2008;29:950-953.

460 PART 9  HEART AND GREAT VESSELS · SECTION 6  OTHER ANOMALIES

CHAPTER

96 

Cardiac Tumors

Fatima Crispi and Josep M. Martinez

INTRODUCTION Cardiac tumors are rare and usually benign with few cardiac complications; most are asymptomatic and eventually involute.1–3 Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock leading to fetal hydrops and death.1–3 Prenatal diagnosis is helpful to monitor these cases and, if necessary, to schedule delivery or perform in utero treatment to improve secondary heart failure.1–3

DISEASE Definition Cardiac tumors are benign (95%) or malignant (5%) neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart.3

Prevalence and Epidemiology Cardiac tumors are uncommon, with an estimated incidence during fetal life of approximately 0.14%. The estimated prevalence from pediatric autopsy series is 0.0017% to 0.28%.1–3

Etiology and Pathophysiology Most cardiac tumors are benign (95%). Rhabdomyoma is the most common cardiac tumor during fetal life and childhood1,3–4 (Figure 96-1). It is followed in frequency by teratoma, fibroma, myxoma, and hemangioma.

FIGURE 96-1.  Single rhabdomyoma. Hyperechogenic tumor is in the apex of the ventricular wall.

Cardiac tumors are usually isolated, with no association with chromosomal anomalies or other structural malformations.1–3 The only exception is the high association (75% to 90%) of multiple rhabdomyomas with tuberous sclerosis4 (Figure 96-2). Detection of multiple cardiac tumors should raise a strong suspicion of rhabdomyoma and tuberous sclerosis. A detailed family history should be obtained in such patients, and genetic counseling should be offered. Tuberous sclerosis is a rare multisystemic neuroectodermal disease characterized by multiple cardiac, intracranial, renal, pulmonary, and skin tumors. Rhabdomyomas generally regress after birth, although the associated neurodevelopmental complications (four-fifths of patients have epilepsy, and two-thirds have delayed development) dominate the clinical picture and should be an important part of the prenatal counseling of parents.1,4 Prenatally, cardiac tumors are usually detected in third trimester. Most keep on growing during pregnancy without hemodynamic consequences. However, depending on the size, number, and location, complications such as arrhythmias, coronary flow reduction, or outflow tract or foramen ovale obstruction can occur, triggering heart failure, fetal hydrops, or eventually perinatal death.1–3 It is mandatory to perform complete structural and functional echocardiography and to arrange regular follow-up.

Manifestations of Disease Clinical Presentation The clinical presentation includes a cardiac mass and occasionally fetal hydrops.

FIGURE 96-2.  Multiple rhabdomyoma. Hyperechogenic tumors spread by the myocardium, ventricular walls, and septum.

CHAPTER 96  Cardiac Tumors 461 depends on gestational age. Neonatal management is always preferred when lung maturity is very likely or assured. Earlier in gestation, in utero pericardiocentesis or pericardioamniotic shunting intervention has anecdotally been described with good results in terms of reversing hydrops and prolonging pregnancy to allow a live newborn. Notwithstanding the anecdotal reports, teratomas leading to hydrops generally are associated with very challenging postnatal management and have an overall poor prognosis.2

Postnatal

FIGURE 96-3.  Giant extracardiac teratoma with severe pericardial effusion.

Imaging Technique and Findings Ultrasound The tumor characteristics on ultrasound (US) depend on the histologic content: • Rhabdomyomas (65% to 70%): These are typically multiple homogeneous and hyperechogenic masses within the myocardium or chordae tendineae cordis1 (see Figure 96-2, Video 96-1). • Teratomas (20% to 25%): These are isolated heterogeneous and encapsulated cystic masses located adjacent to the pericardium. Most cases manifest with accumulation of fluid in the pericardial space, which can trigger fetal hydrops and stillbirth2 (Figure 96-3, Video 96-2). • Fibromas (10% to 15%): These are usually solid, homo­ geneous, isolated, and located within the ventricular myocardium. • Myxoma: This is a pediculated tumor in the atria lumen. • Hemangiomas: These are solid tumors. Other US findings relate to the mass effect of the tumor: heart failure, hydrops, pericardial effusion, and arrhyth­­mia1–3 (Video 96-1). A strict functional echocardiographic follow-up is mandatory. Other Applicable Modality Echocardiography, computed tomography (CT), and magnetic resonance imaging (MRI) of the heart are the main noninvasive diagnostic tools.1–3 However, postnatal tumor biopsy or surgical resection with histologic assessment remains the gold standard for confirmation of the diagnosis.

SYNOPSIS OF TREATMENT OPTIONS Prenatal Expectant management is the recommended approach.1–3 Prenatal therapy is proposed only in the presence of severe fetal hemodynamic deterioration, hydrops, or uncontrollable arrhythmias.1–3 In the presence of hydrops, treatment

Rhabdomyomas generally regress after birth.1 Surgical resection of cardiac tumors depends on histologic suspicion and localization or association with symptoms or mechanical obstruction to blood flow.3 WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW Most prenatally detected cardiac tumors are rhabdomyomas, which usually are benign. However, if multiple tumors are observed, the possibility of tuberous sclerosis has to be considered. Strict monitoring of heart function to rule out impending cardiac failure or hydrops is recommended. KEY POINTS • The

most frequent cardiac tumors are rhabdomyomas.

• The

presence of multiple cardiac tumors suggests tuberous sclerosis.

• Strict

follow-up is warranted. Outflow tract obstruction, arrhythmia, and hydrops may develop.

• In

the presence of fetal hydrops, particularly in the case of pericardial effusion secondary to teratoma, in utero treatment may be an option.

▶ SUGGESTED READING Degueldre S, Chockalingam P, Mivelaz Y, et al. Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes. Cardiol Young. 2010;20:18-24. Holley DG, Martin GR, Brenner JI. Diagnosis and management of fetal cardiac tumors: a multicenter experience and review of published reports. J Am Coll Cardiol. 1995;26:516-520.

REFERENCES 1. Paladini D, Palmieri S, Russo MG, et al: Cardiac multiple rhabdomyomatosis: prenatal diagnosis and natural history. Ultrasound Obstet Gynecol. 1996; 7:84-85. 2. Devlieger R, Hindryckx A, Van Mieghem T, et al. Therapy for foetal pericardial tumors: survival following in utero shunting, and literature review. Fetal Diagn Ther. 2009;25:407-412. 3. Uzun O, Wilson DG, Vujanic GM, et al. Cardiac tumors in children. Orphanet J Rare Dis. 2007;2:11. 4. Isaacs H. Perinatal (fetal and neonatal) tuberous sclerosis: a review. Am J Perinatol. 2009;26:755-760.

462 PART 9  HEART AND GREAT VESSELS · SECTION 7  ARRHYTHMIAS

SECTION SEVEN

ARRHYTHMIAS CHAPTER

97 

Arrhythmias

Fatima Crispi and Josep M. Martinez

INTRODUCTION

Manifestations of Disease

Fetal arrhythmias include any irregularity in fetal heart rate in the absence of uterine contractions or regular heart rate less than 100 beats/min or greater than 180 beats/min.1,2 Fetal arrhythmias occur in 2% of pregnancies; however, most of them are benign and do not require in utero treatment.1,2 At least 90% of arrhythmias correspond to irregular rhythms (ectopic beats); 8%, to tachyarrhythmias (heart rate >180 beats/min); and 2%, to bradyarrhythmias (heart rate 30%) or posterior neurologic impairment.

Manifestations of Disease

FIGURE 97-2.  Bigeminy (A) and trigeminy (B) as shown in umbilical artery flow.

CLASSIC SIGNS Irregular rhythm with premature atrial beat followed by a compensating pause

SYNOPSIS OF TREATMENT OPTIONS Prenatal No treatment is required because most cases are well tolerated and self-limited. However, reduced caffeine intake and smoking withdrawal is empirically recommended by some groups. Perinatal management does not need to be changed, and a vaginal delivery in a nontertiary center can be offered.

Postnatal Usually, no treatment is required. WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW Most cases are benign and self-limited; however, a complete echocardiographic assessment and regular follow-up are required. Follow-up may be through auscultation at routine prenatal visits for any evidence of tachycardia.

SUPRAVENTRICULAR TACHYCARDIA Definition Supraventricular tachycardia is atrial tachycardia (usually 220 to 260 beats/min) with 1 : 1 atrioventricular conduction.

Prevalence and Epidemiology Supraventricular tachycardia accounts for 1% to 5% of fetal arrhythmias. Despite being the most common fetal tachyarrhythmia, it is infrequent, affecting 1 : 10,000 pregnancies.1

Etiology and Pathophysiology The mechanism is an atrioventricular reentry based on retrograde atrial activation across a fast conducting accessory

Clinical Presentation Clinical presentation consists of auscultation of maintained fetal heart rate at 220 to 260 beats/min or diagnosis of fetal hydrops.1 Imaging Technique and Findings Ultrasound Supraventricular tachycardia is characterized by a fetal heart rate greater than 180 beats/min (usually 220 to 260 beats/min) with 1 : 1 atrioventricular conduction. Atrial rhythm and ventricular rhythm should be almost equal (Videos 97-1 and 97-2).1 Atrial and ventricular rates can be evaluated simultaneously by pulsed Doppler or M-mode (Figures 97-4 and 97-5). CLASSIC SIGNS In 30% to 50% of cases, the presence of hydrops fetalis is the first diagnostic sign.

DIFFERENTIAL DIAGNOSIS FROM IMAGING FINDINGS The differential diagnosis includes atrial flutter characterized by different atrial (>300 to 400 beats/min) and ventricular (180 to 200 beats/min) rates owing to some atrioventricular block leading to 3 : 1 to 4 : 1 conduction1 (Figure 97-6 and Video 97-3).

SYNOPSIS OF TREATMENT OPTIONS Prenatal The decision to treat depends on gestational age, heart rate, intermission, and presence of hydrops.1 In most cases, an intrauterine cardioversion can be tried with drugs administered to the mother. Only in selected cases (short periods of tachycardia without hydrops near term) is the treatment postponed postnatally. The aim of treatment is cardioversion to sinus rhythm or at least decreasing heart rate to less than 210 to 220 beats/min.1 Supraventricular Tachycardia without Hydrops Maternal administration of digoxin (0.25 mg every 8 hours orally) is considered the best option because of its high efficacy, safety, and low cost.1 Therapeutic fetal dosage is

464 PART 9  HEART AND GREAT VESSELS · SECTION 7  ARRHYTHMIAS

A

* B

achieved with maternal plasma levels of 0.8 to 2 ng/mL. Maternal administration of flecainide (150 mg every 8 hours orally) can be added if tachycardia persists after 2 weeks. Cardioversion is achieved in 80% to 95%. Supraventricular Tachycardia and Hydrops Maternal flecainide is the first option because hydrops diminishes in a high proportion with the transplacental transfer of digoxin.1 Efficacy of the treatment is reduced in such cases, and cardioversion is achieved in 65% to 75% of cases. In refractory cases, direct fetal administration of amio­darone by cordocentesis can be performed. After car­ dioversion is achieved, fetal hydrops may remain for 2 to 3 weeks.

FIGURE 97-3.  A, Paroxysmal supraventricular tachycardia (259 beats/ min), which suddenly stops falling in a bigeminal pattern. B, After 1 minute, tachycardia is suddenly triggered by an ectopic premature beat (asterisk).

Postnatal Postnatal treatment during the 1st year of life is usually required. Afterward, more than 80% of cases resolve spontaneously owing to progressive atrophy (anatomic or functional) of the accessory pathway. However, recurrence or persistence in childhood requiring coagulation of the accessory pathway also has been described.1 WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW Prenatal treatment of fetal tachycardia can reduce the risk of hydrops and improve prognosis.

CHAPTER 97  Arrhythmias 465

FIGURE 97-4.  Supraventricular tachycardia evaluated by intracardiac Doppler (251 beats/min).

FIGURE 97-5.  Supraventricular tachycardia evaluated by M-mode, showing 1 : 1 atrioventricular conduction. Atrial rate is 212 beats/min, and ventricular rate is 214 beats/min.

466 PART 9  HEART AND GREAT VESSELS · SECTION 7  ARRHYTHMIAS

FIGURE 97-6.  Atrial flutter. Atrial rate is measured by M-mode (472 beats/min).

COMPLETE ATRIOVENTRICULAR BLOCK Definition Complete atrioventricular block refers to fetal bradycardia characterized by complete dissociation between atrial (normal) and ventricular (4 to 5 cm) have an estimated prevalence of 1 : 3500 to 1 : 9000 pregnancies.2

Etiology and Pathophysiology Histologically, chorioangiomas are either hamartomas arising from the chorionic mesenchyme or nontrophoblastic primary placental neoplasms that develop from the placental vessels as hemangiomas.3

Manifestations of Disease Clinical Presentation Chorioangiomas greater than 4 cm in maximum diameter or multiple smaller chorioangiomas have been associated

CHAPTER 101  Chorioangioma 481

2

3

1

FIGURE 101-1.  Two-dimensional US image of placental chorioangioma.

with adverse perinatal outcomes, including intrauterine growth restriction, polyhydramnios, fetomaternal hemorrhage, disseminated intravascular coagulation, platelet sequestration, and neonatal hypoalbuminemia.4 Imaging Technique and Findings Ultrasound Although placental chorioangiomas are the most common benign placental tumors, their diagnosis on ultrasound (US) has rarely been reported. This situation is likely due to the difficulty in differentiating these tumors from other placental lesions and the fact that only tumors larger than 5 cm are associated with clinical manifestations.5 They can appear as well-circumscribed, hypoechoic lesions compared with the surrounding placental tissue (Figure 101-1).5 Large tumors can be of various shapes and can contain fibrous septa.6 Calcification and necrosis are occasionally observed and have been associated with reduced blood flow, improved clinical symptoms, and better outcome.7 The use of Doppler is helpful in the evaluation because a chorioangioma is a vascular lesion with prominent blood flow (Figure 101-2).8 The prominent blood flow may help in differentiating a chorioangioma from a hematoma or fibrin collection, which would not have any significant blood flow.8 Prapas et al.7 retrospectively reviewed cases of suspected chorioangioma over a 9-year period. Because the gray-scale appearance of a chorioangioma is indistinguishable from placental hemorrhage, these investigators confirmed the utility of color flow mapping and pulsed Doppler for diagnosis.7 In addition, color Doppler imaging can confirm vascular channels that are continuous with the fetal circulation, ruling out other diagnoses, such as degenerated myoma, placental teratoma, or incomplete hydatidi­­ form mole.7

FIGURE 101-2.  Two-dimensional US image of placental chorioangioma with color Doppler showing vessels within the lesion.

DIFFERENTIAL DIAGNOSIS FROM IMAGING FINDINGS The differential diagnosis of solid placental masses includes the following9: 1. Placental hemorrhage 2. Placental teratoma 3. Partial hydatidiform mole 4. Degenerated myoma 5. Maternal tumor metastatic to the placenta Because chorioangiomas are vascularized tumors, the use of color and pulsed Doppler can aid in the differentiation.7

482 PART 10  PLACENTA AND CORD

SYNOPSIS OF TREATMENT OPTIONS Prenatal When the diagnosis is suspected, US surveillance is initially recommended every 2 to 3 weeks, followed by weekly scans beginning at 32 weeks’ gestation.10 Because the hemodynamic changes progress rapidly, Doppler evaluation of the fetal circulation and fetal echocardiography are recommended.10 The management of symptomatic or complicated chorioangiomas depends primarily on fetal symptoms and gestational age.1 Previous cases were treated with indomethacin and digoxin given to the mother.11 These treatments were successful in cases with maternal mirror hydrops and cardiac failure. In 1996, Quintero et al.2 were the first to attempt direct treatment of a large chorioangioma by endoscopy-guided ligation and bipolar electrocautery of the feeding vessel.13 Although the procedure itself was considered successful, the fetus died 3 days later.12 Nicolini et al.13 performed a less invasive procedure of percutaneous, US-guided chemosclerosis, using absolute alcohol. Although these initial cases resulted in a good outcome, several other authors employed the same technique without success. Embolization of the chorioangioma using microcoils and enbucrilate was also employed but resulted in fetal demise.14,15 Finally, endoscopyassisted laser coagulation of feeding vessels was attempted in a few cases with mixed results. Improvement of current techniques and more research are necessary to determine the risks and benefits of intervention.16 WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW • Chorioangiomas

are benign placental tumors that usually are associated with a good outcome.

• Smaller

diameter lesions have few complications; lesions greater than 4 cm in diameter require closer surveillance.

KEY POINTS • Chorioangiomas

are the most common benign tumor of the

placenta. • These

tumors are usually well circumscribed, vascular, and predominantly hypoechoic, ranging from microscopic to several centimeters in diameter.

• Chorioangiomas

with diameters greater than 4 cm have been associated with adverse perinatal outcomes, including intrauterine growth restriction, polyhydramnios, fetomaternal hemorrhage, disseminated intravascular coagulation, platelet sequestration, and neonatal hypoalbuminemia.

• After

diagnosis, US surveillance every 2 to 3 weeks is recommended, followed by weekly scans after 32 weeks’ gestation to monitor for complications.

• Multiple

medical and surgical interventions have been employed with unclear benefit.

▶ SUGGESTED READING Sepulveda W, Alcalde JL, Schnapp C, et al. Perinatal outcome after prenatal diagnosis of placental chorioangioma. Obstet Gynecol. 2003,102:1028. Taori K, Patil P, Attarde V, et al. Chorioangioma of placenta: sonographic features. J Clin Ultrasound. 2008;36:113-115. Zalel Y, Weisz B, Gamzu R, et al. Chorioangiomas of the placenta. J Ultrasound Med. 2002,21:909-913. Zanardini C, Papageorghiou A, Bhide A, et al. Giant placental chorioangioma: natural history and pregnancy outcome. Ultrasound Obstet Gynecol. 2010,35:332-336.

REFERENCES 1. Zanardini C, Papageorghiou A, Bhide A, et al. Giant placental chorioangioma: natural history and pregnancy outcome. Ultrasound Obstet Gynecol. 2010;35:332-336. 2. Quintero RA, Reich H, Romero R, et al. In utero endoscopic devascularization of a large chorioangioma. Ultrasound Obstet Gynecol. 1996;8:48. 3. Benirschke K, Kaufman P. Pathology of the human placenta: benign tumors. New York: Springer-Verlag; 1995:709-718. 4. Sepulveda W, Alcalde JL, Schnapp C, et al. Perinatal outcome after prenatal diagnosis of placental chorioangioma. Obstet Gynecol. 2003;102:1028. 5. Zalel Y, Weisz B, Gamzu R, Schiff E, et al. Chorioangiomas of the placenta. J Ultrasound Med. 2002;21:909-913. 6. Bromley B, Benacerraf BR. Solid masses on the fetal surface of the placenta: differential diagnosis and clinical outcome. J Ultrasound Med. 1994;13:883-886. 7. Prapas N, Liang RI, Hunter D, et al. Color Doppler imaging of placental masses: differential diagnosis and fetal outcome. Ultrasound Obstet Gynecol. 2000;16:559-563. 8. Jauniaux E, Ogle R. Color Doppler imaging in the diagnosis and management of chorioangiomas. Ultrasound Obstet Gynecol. 2000; 15:463-467. 9. Wolfe BK, Wallace JHK. Pitfall to avoid: Chorioangioma of the placenta simulating fetal tumor. J Clin Ultrasound. 1987;15:405-408. 10. Zalel Y, Gamzu R, Weiss Y, et al. Role of color Doppler imaging in diagnosing and managing pregnancies complicated by placental chorioangiomas. J Clin Ultrasound. 2002;30:264-269. 11. Kriplani A, Abbi M, Banerjee N, et al. Indomethacin therapy in the treatment of polyhydramnios due to placental chorioangioma. J Obstet Gynaecol Res. 2001;27:245-248. 12. Quarello E, Bernard J, Leroy B, et al. Prenatal laser treatment of a placental chorioangioma. Ultrasound Obstet Gynecol. 2005;25: 299-301. 13. Nicolini U, Zuliani G, Caravelli E, et al. Alcohol injection: a new method of treating placental chorioangiomas. Lancet. 1999;353: 1674-1675. 14. Lau TK, Leung TY, Yu SC, et al. Prenatal treatment of chorioangioma by microcoil embolisation. BJOG. 2003;110:70-73. 15. Lau TK, Yu SC, Leung TY, et al. Prenatal embolisation of a large chorioangioma using enbucrilate. BJOG. 2005;112:1002-1004. 16. Sepulveda W, Wong A, Herrera L, et al. Endoscopic laser coagulation of feeding vessels in large placental chorioangiomas: report of three cases and review of invasive treatment options. Prenat Diagn. 2009;29:201-206.

CHAPTER 102  Choriocarcinoma 483

CHAPTER

102 

Choriocarcinoma

Jaclyn M. Coletta, Sharyn N. Lewin, and Mary E. D’Alton

INTRODUCTION Malignant gestational trophoblastic disease (GTD) occurs when there is clinical, radiologic, pathologic, or hormonal evidence of persistent trophoblastic tissue. Malignant GTD is most commonly diagnosed after a molar pregnancy, but it can occur after any type of gestation.1

DISEASE Definition Choriocarcinoma is a form of gestational trophoblastic neoplasia (GTN). It arises from cytotrophoblast and produces beta-human chorionic gonadotropin (beta-hCG).2

Prevalence and Epidemiology

toms such as cough, chest pain, or hemoptysis or gastrointestinal, urologic, or intracerebral bleeding.5 Imaging Technique and Findings Ultrasound Patients with suspected malignant GTD must undergo a thorough evaluation before therapy is instituted. Patients should have pelvic US with Doppler to look for retained trophoblastic tissue, measure the uterine size and volume, and evaluate the pelvis for local disease spread and disease vascularity.6 Lesions appear as heterogeneous, echogenic masses with areas of necrosis and hemorrhage. Choriocarcinomas are markedly hypervascular on Doppler interrogation.6 (See figures in Chapter 106.) Magnetic Resonance Imaging Because pulmonary metastases are most common, chest imaging with chest radiography or computed tomography (CT) is required to evaluate for lung metastases.7 If lesions are noted within the chest, brain magnetic resonance imaging (MRI) and body CT are recommended to evaluate for more widespread disease.7

Choriocarcinoma develops in approximately 1 : 16,000 normal gestations, 1 : 15,000 abortions, and 1 : 40 complete molar pregnancies.1,2 It is the most aggressive form of GTN and is characterized by early vascular invasion and widespread metastases to the lungs most commonly, followed by the vagina, liver, and brain.2

SYNOPSIS OF TREATMENT OPTIONS

Etiology and Pathophysiology

Prenatal

Gestational choriocarcinoma comprises both neoplastic syncytiotrophoblast and cytotrophoblast elements without chorionic villi.3

Treatment recommendations depend on the extent of disease at the time of diagnosis. FIGO classified disease stage based on an anatomic system.8 The World Health Organization published a prognostic scoring system that assigned a weighted value to different individual clinical variables.2 The total prognostic index score used was a sum of the individual component scores to generate three risk categories. This scoring system was incorporated into the revised FIGO staging system (Table 102-1).8 Most patients with hydatidiform mole who develop neoplasia have low-risk disease. These patients (score 0-6 or FIGO stage I) should be treated with single-agent methotrexate or actinomycin D chemotherapy.9,10 The traditional treatment consists of methotrexate given intramuscularly or intravenously for 5 to 8 days every 2 weeks.9 In one study of 253 patients initially treated with this regimen, 89.3% achieved primary remission with methotrexate, 8.7% achieved primary remission with actinomycin D, and only 2% required multiagent chemotherapy or hysterectomy for cure.9 When resistance to single-agent chemotherapy develops, multiagent regimens, as for high-risk disease, should be given. Cure rates for low-risk metastatic GTN approach 100% with appropriate classification and administration of proper treatment.11 Patients with high-risk metastatic GTN (FIGO stage IV or score >7) should be treated initially with multiagent

Manifestations of Disease Clinical Presentation The diagnosis is usually based on an increasing or stable serum level of beta-hCG after evacuation of a complete or partial molar pregnancy. However, women who develop malignant GTD after a nonmolar pregnancy usually undergo evaluation with ultrasound (US) and serum beta-hCG only after they present with symptoms such as late postpartum bleeding.2 According to the International Federation of Gynecology and Obstetrics (FIGO), the diagnosis can be made based on clinical or histopathologic criteria. These criteria include (1) a beta-hCG plateau for at least four values over 3 weeks, (2) beta-hCG increase of 10% or greater for at least three values over 2 weeks, (3) persistence of beta-hCG 6 months after molar pregnancy evacuation, (4) histopathologic diagnosis of choriocarcinoma, or (5) presence of metastatic disease.4 Choriocarcinoma can metastasize owing to its propensity for early vascular invasion. The most common metastatic sites are lung (80%), vagina (30%), brain (10%), and liver (10%). Disease can manifest with respiratory symp-

484 PART 10  PLACENTA AND CORD TABLE 102-1.  Revised International Federation of Gynecology and Obstetrics (FIGO) Scoring System FIGO Score 0

1

2

4

Age (y)

39

—

—

Prior pregnancy

Molar

Abortion

Term pregnancy

—

Months from prior pregnancy

12

Pretreatment beta-hCG

10,000–100,000

>100,000

Largest tumor (cm)

3–4

5

—

—

Site of metastases

Lung, vagina

Spleen, kidney

Gastrointestinal tract

Brain, liver

No. metastases

0

1–4

4–8

>8

Failed chemotherapy

—

—

Single drug

≥2

Adapted from FIGO Oncology Committee: FIGO staging for gestational trophoblastic neoplasia 2000. FIGO Oncology Committee. Int J Gynaecol Obstet. 2002; 77:285-287.

chemotherapy, with or without adjuvant surgery or radiation therapy.12,13 EMA-CO (etoposide, high-dose methotrexate with folinic acid, actinomycin D, cyclophosphamide, and vincristine [Oncovin]) has been extensively studied for 20 years, and its efficacy has been confirmed with complete response rates ranging from 67% to 78% and long-term survival rates ranging from 85% to 94%.13 This protocol is currently the initial treatment of choice for high-risk metastatic GTN because of low toxicity, adherence to treatment schedules, high complete response rates, and overall high survival.13 When central nervous system metastases are present, whole brain irradiation or surgical excision is employed in addition to chemotherapy.14 Postnatal After beta-hCG remission has been achieved, patients with malignant GTD should undergo serial determinations of beta-hCG levels at 2-week intervals for the first 3 months of remission and then at 1-month intervals, until monitoring indicates 1 year of normal beta-hCG levels.15,16 The risk of recurrence after 1 year of remission is less than 1%.16 Patients must be counseled on the importance of contraception during the 1st year of remission. There is a 1% to 2% risk for recurrence, and early US examination is recommended in subsequent pregnancies.16

• Women

with low-risk disease should be treated with singleagent chemotherapy.

• Women

with high-risk disease should be treated with multiagent chemotherapy.

• After

treatment, patients should be monitored with serial beta-hCG levels for 1 year to observe for recurrence.

▶ SUGGESTED READING Altieri A, Franceschi S, Ferlay J, et al. Epidemiology and aetiology of gestational trophoblastic diseases. Lancet Oncol. 2003;4:670. Berkowitz R, Goldstein D. Current management of gestational trophoblastic diseases. Gynecol Oncol. 2009;112:654-662. Berkowitz R, Goldstein D. Molar pregnancy. N Engl J Med. 2009;360: 1639-1644. Committee on Practice Bulletins—Gynecology, American College of Obstetricians and Gynecologists. ACOG Practice Bulletin #53. Diagnosis and treatment of gestational trophoblastic disease. Obstet Gynecol. 2004;103:1365. Morgan JM, Lurain JR. Gestational trophoblastic neoplasia: an update. Curr Oncol Rep. 2008;10:497-504. Seckl MJ, Sebire NJ, Berkowitz R. Gestational trophoblastic disease. Lancet. 2010;376:717-729. Soper JT. Gestational trophoblastic disease. Obstet Gynecol. 2006;108:176.

REFERENCES WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW Choriocarcinoma is a form of malignant GTD that can occur after normal or molar pregnancies and that includes local or widespread metastases. Treatment is based on staging criteria.

KEY POINTS • Malignant

GTD occurs when there is clinical, radiologic, pathologic, or hormonal evidence of persistent trophoblastic tissue.

• Patients

with abnormal bleeding should be evaluated with beta-hCG screening.

• Patients

with suspected GTN should undergo pelvic US, chest radiography, and possibly CT or MRI.

1. Berkowitz RS, Goldstein DP. Gestational trophoblastic diseases. In: Hoskins WJ, Perez CA, Young RC, eds. Principles and practice of gynecologic oncology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2000:1117-1137. 2. Seckl MJ, Sebire NJ, Berkowitz R. Gestational trophoblastic disease. Lancet. 2010;376:717-729. 3. Morgan JM, Lurain JR. Gestational trophoblastic neoplasia: an update. Curr Oncol Rep. 2008;10:497-504. 4. Kohorn EI. The new FIGO 2000 staging and risk factor scoring system for gestational trophoblastic disease: description and clinical assessment. Int J Gynecol Cancer. 2001;11:73-77. 5. Berkowitz RS, Goldstein DP. Molar pregnancy. N Engl J Med. 2009;360:1639-1645. 6. Allen SD, Lim AK, Seckl MJ, et al. Radiology of gestational trophoblastic neoplasia. Clin Radiol. 2006;61:301-313. 7. Berkowitz RS, Goldstein DP. Molar pregnancy. N Engl J Med. 2009;360:1639-1645.

CHAPTER 103  Placenta Circumvallata 485 8. FIGO Oncology Committee. FIGO staging for gestational trophoblastic neoplasia 2000. FIGO Oncology Committee. Int J Gynaecol Obstet. 2002;77:285. 9. Soper JT, Clarke-Pearson DL, Berchuck A, et al. 5-Day methotrexate for women with metastatic gestational trophoblastic disease. Gynecol Oncol. 1994;54:76-79. 10. Seckl MJ, Fisher RA, Salerno GA, et al. Choriocarcinoma and partial hydatidiform moles. Lancet. 2000;356:36-39. 11. Alazzam M, Tidy J, Hancock BW, et al. First line chemotherapy in low risk gestational trophoblastic neoplasia. Cochrane Database Syst Rev 1:CD007102, 2009. 12. Deng L, Yan X, Zhang J, et al. Combination chemotherapy for highrisk gestational trophoblastic tumour. Cochrane Database Syst Rev 3:CD005196, 2009.

CHAPTER

13. Turan T, Karacay O, Tulunay G, et al. Results with EMA/CO chemotherapy in gestational trophoblastic neoplasia. Int J Gynecol Cancer. 2006;16:1432-1438. 14. Newlands ES, Holden L, Seckl MJ, et al. Management of brain metastases in patients with high-risk gestational trophoblastic tumors. J Reprod Med. 2002;47:465-471. 15. Hancock BW, Tidy JA. Current management of molar pregnancy. J Reprod Med. 2002;47:347-354. 16. Committee on Practice Bulletins—Gynecology, American College of Obstetricians and Gynecologists. ACOG Practice Bulletin #53. Diagnosis and treatment of gestational trophoblastic disease. Obstet Gynecol. 2004;103:1365.

103 

Placenta Circumvallata Shai M. Pri-Paz and Mary E. D’Alton INTRODUCTION

Prevalence and Epidemiology

Placenta circumvallata is a placental anomaly in which the membranous chorion transitions to a villous chorion at a distance from the placental edge. It was first described in the 18th century and was compared with a soup plate.1 In the past, it was thought that this condition did not affect the course of pregnancy.2 However, it is now believed that this condition may be associated with several adverse pregnancy outcomes.

The diagnosis can be made only after the third stage of labor, when the placenta is delivered. The reported prevalence of placenta circumvallata ranges from 0.5%3 to 21%.4 This wide range is due to various inclusion criteria, such as limiting inclusion to complete circumvallata versus inclusion of cases with partial circumvallata, and to different populations studied. Generally, placenta circumvallata is believed to be present in 1% to 7% of deliveries.5 Definite risk factors have not been identified. A few reports suggest a higher risk in a multigravida4,6 and a risk of recurrence.2

DISEASE Definition Placenta circumvallata is a placental anomaly in which the transition from membranous to villous chorion occurs at some distance from the placental edge. The result is a central depression surrounded by a thickened, raised, and plicated gray-white ring on the fetal surface of a placenta, and a chorionic plate that is smaller than the placental basal plate. The ring is composed of a double fold of chorion and amnion, with degenerated decidua and fibrin in between. The ring may be at varying distances from the periphery and may surround the entire circumference of the placenta or just a portion of it. The portion of the placenta that is not covered by chorion is called the extrachorialis. Circummarginate placenta refers to a similar condition, in which the placenta does not have a prominent fold and a central depression but rather has a marginal flat ring along the periphery of the placenta where the fetal vessels appear to terminate.1,3 This ring may be complete or limited to a portion of the placenta. Some placentas may show combined elements of circummarginate placenta and circumvallate placenta.

Etiology and Pathophysiology The etiology is unclear, and many theories have been proposed. One theory suggests the extrachorial placenta is the result of bleeding at the edge of the placenta, occurring early in pregnancy.3 However, most theories attribute this condition to abnormal implantation. In the past, it was believed that circumvallate placenta occurred secondary to shallow implantation into the decidua3,7; however, more recently, some authors have suggested that this condition results from excessive implantation of the blastocyst into the endometrium.1,7 According to the latter theory, an early placenta covers more than half of the fetal sac. As the amniotic sac expands, the peripheral excess placental tissue is withdrawn from the uterine wall. This detached rim of placenta slowly atrophies. This rim is composed of a double fold of chorion and amnion, with degenerated decidua and fibrin in between. The ring itself may extend through the whole circumference of the placenta or just a portion of it. The fetal surface within the ring appears normal except that the large vessels terminate abruptly at the ring edge.

486 PART 10  PLACENTA AND CORD Consequently, and regardless of the exact mechanism, some placental tissue is not covered by the chorionic plate, and the amniotic cavity may be smaller than normal.5 The placental portion not covered by the chorion is referred to as the extrachorialis and may bleed easily. The lack of amnion coverage may facilitate the spread of an ascending infection. Bleeding and infection may lead to preterm labor and preterm delivery.

Manifestations of Disease Clinical Presentation A circumvallate placenta is associated with various adverse pregnancy outcomes. Some reports are limited to cases of total circumvallate placentas, whereas others have included cases of partial circumvallata and reported no differences between the groups.2,8 Many pregnancies have no symptoms that suggest the presence of placenta circumvallata.2 Antepartum hemorrhage is the most common sign and usually the initial complication. Bleeding has been reported in 50% of these pregnancies. Bleeding may occur at any gestational age, is usually intermittent, and is variable in amount.2–4,9 The bleeding may resemble the bleeding in placenta previa, although bleeding in placenta previa is more likely to occur in the third trimester, after 28 weeks’ gestation3—later than circumvallate bleeding. Bleeding may be due to placental abruption, disruption of maternal vessels at the abnormal margin of the extrachorial placenta, or fetal hemorrhage. A higher risk of placental abruption has been reported in pregnancies with circumvallate placenta.4,10 A watery vaginal discharge, termed hydrorrhea gravidarum, has been reported in 10% of pregnancies com­ plicated by placenta circumvallata2,3; this must be differentiated from rupture of the amniotic membranes. Preterm delivery can occur in 40% of circumvallate pregnancies.3,8 Placenta circumvallata may also be responsible for early miscarriages.2 Reported neonatal outcomes include lower birth weight,4,6 low Apgar scores,11 and a higher rate of congenital malformations.8 Perinatal mortality has been reported in 11% to 33% of pregnancies.3,8,9 Circumvallate placenta has been associated with postpartum hemorrhage and retained placenta, requiring manual removal or resulting in postpartum endometritis.2,3 A large study that included 139 singleton deliveries complicated by placenta circumvallata10 showed a significantly increased incidence of premature delivery, oligohydramnios, nonreassuring fetal tracing, placental abruption, low Apgar scores, intrauterine fetal demise, and emergent cesarean deliveries. Circummarginate placenta is not associated with increased rates of perinatal death or congenital malformations but may be associated with an increased rate of preterm delivery.8 Imaging Technique and Findings Ultrasound A few ultrasound (US) characteristics have been reported in cases of placenta circumvallata. US findings may include infolding of the fetal membrane on the fetal surface of the placenta during the middle of the second trimester and bright border at the periphery of the placenta in the third trimester.12 A shelf of tissue, continuous with the edge of the placenta and protruding into the uterine cavity,13,14 may

A

B FIGURE 103-1.  Characteristic appearance on US of circumvallate placenta. A, Curled peripheral edges (arrows) are seen in this anterior placenta. B, Curled peripheral edges (arrows) are seen in this pregnancy at 15 weeks’ gestation. At this stage, the amnion is not yet apposed to the chorion. (From Callen PW. Ultrasonography in obstetrics and gynecology. 5th ed. Philadelphia: Saunders; 2008:725.)

also be found at the margin of the placenta on US examination. The extrachorialis may appear to have anechoic subamniotic cystic areas. Fibrin deposits may modify the echogenicity of the lesion during the third trimester.5 US may also reveal a detached amniotic membrane, secondary to amnion rupture (Figures 103-1 and 103-2).15 The detection rate for placenta circumvallata is low. In a study of 139 reported cases, none were detected prenatally.10 Another study16 intending to determine the accuracy of prenatal diagnosis of placenta circumvallata using a focused, placental US examination did not confirm the predictive power of US and resulted in high false-positive and false-negative detection rates. Another study13 evaluated US identification of a placental shelf in the early second trimester. The shelf was identified in 17 pregnancies (11% of the population scanned), but it did not persist to the third trimester in any of the

CHAPTER 103  Placenta Circumvallata 487

DIFFERENTIAL DIAGNOSIS FROM IMAGING FINDINGS 1. The diagnosis of placenta circumvallata should be considered in any case of prenatal bleeding after placenta previa has been ruled out. 2. The differential diagnosis when circumvallate placenta is suspected on US includes subchorionic thrombosis or fibrin deposition, which may be found in 20% of normal placentas. 3. Chorioangioma, which may appear as a wellcircumscribed and lobulated, dense mass5; amniotic band; uterine adhesion; and septate uterus13 should be considered in the differential diagnosis when a protrusion into the amniotic cavity from the placenta is noted.

SYNOPSIS OF TREATMENT OPTIONS Prenatal Intervention is not usually required other than supportive measures in an attempt to prolong the pregnancy to term.2,4

Postnatal Diligent inspection of every placenta would improve the detection rate of placenta circumvallata and may reduce the risk of third-stage complications, such as postpartum hemorrhage, retained placenta, and endometritis.3 WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW • Placenta

circumvallata should be considered in any case of antepartum bleeding with a normally located placenta.

• Placenta

circumvallata is associated with adverse pregnancy outcomes.

• Placenta

FIGURE 103-2.  A, View of a complete circumvallate placenta in the second trimester with a thick, curled peripheral ridge. This appearance should not be confused with uterine synechiae (B). (From Callen PW. Ultrasonography in obstetrics and gynecology. 5th ed. Philadelphia: Saunders; 2008:725.)

circumvallata is associated with third-stage complications such as postpartum hemorrhage, retained placenta, and endometritis, and a careful inspection of the delivered placenta is recommended.

KEY POINTS • Placenta

17 pregnancies. None of the pregnancies in this study had placenta-related complications or gross placental pathology. Despite the low rate of prenatal diagnosis by US, placenta circumvallata should be considered in any case of antepartum bleeding with a normally located placenta because it has been suggested that the condition is responsible for 20% of cases of prenatal bleeding in multigravidas, without placenta previa.9 The reported association between circumvallate placenta and congenital malformations warrants a detailed fetal anatomic survey in such pregnancies. Magnetic Resonance Imaging The role of magnetic resonance imaging (MRI) in the diagnosis of circumvallate placenta has not been studied, and the use of MRI is not suggested.

circumvallata should be suspected when prenatal hemorrhage occurs in the presence of a normally located placenta.

• The

prenatal detection rate of placenta circumvallata is low.

• Placenta

circumvallata is associated with increased risk of prenatal bleeding, preterm delivery, low birth weight, congenital malformations, and perinatal mortality.

• A

definitive diagnosis of placenta circumvallata requires careful inspection of the delivered placenta.

• When

placenta circumvallata is identified postpartum, complete removal of the placenta should be confirmed.

▶ SUGGESTED READING Sistrom CL, Ferguson JE. Abnormal membranes in obstetrical ultrasound: incidence and significance of amniotic sheets and circumvallate placenta. Ultrasound Obstet Gynecol. 1993;3:249-255.

488 PART 10  PLACENTA AND CORD REFERENCES 1. Torpin R. Placenta circumvallata and placenta marginata. Obstet Gynecol. 1955;6:277-278. 2. Wilson D, Paalman RJ. Clinical significance of circumvallate placenta. Obstet Gynecol. 1967;29:774-778. 3. Hermann AZ. Circumvallate placenta, a cause of antepartum bleeding, premature delivery and perinatal mortality. Obstet Gynecol. 1963;22: 798-802. 4. Benson RC, Fujikura T. Circumvallate and circummarginate placenta— unimportant clinical entities. Obstet Gynecol. 1969;34:799-804. 5. Jauniaux E, Avni FE, Donner C, et al. Ultrasonographic diagnosis and morphological study of placenta circumvallate. J Clin Ultrasound. 1989;17:126-131. 6. Rolschau J. Circumvallate placenta and intrauterine growth retardation. Acta Obstet Gynecol Scand. 1978;72:11-14. 7. Torpin R. Evolution of a placenta circumvallata. Obstet Gynecol. 1965;27:98-101. 8. Lademacher DS, Vermeulen RCW, Harten JJVD, Arts NFT. Cir­ cumvallate placenta and congenital malformation. Lancet. 1981; 1:732.

CHAPTER

9. Maqueo-Topete M, Chavez-Azuela J, Valenzuela-Lopez S, EspinozaHernandez J. Placenta accreta and circumvallate (extrachorialis). Obstet Gynecol. 1968;32:397-401. 10. Suzuki S. Clinical significance of pregnancies with circumvallate placenta. J Obstet Gynaecol Res. 2008;34:51. 11. Lauslahti K, Ikonen S. Placenta as an indicator of fetal postnatal prognosis. Acta Obstet Gynaecol Scand. 1979;58:163-167. 12. Bey M, Dott A, Miller JM Jr. The sonographic diagnosis of circumvallate placenta. Obstet Gynecol. 1991;78:515-517. 13. Shen O, Golomb E, Lavie O, et al. Placental shelf—a common typically transient and benign finding on early second trimester sonography. Ultrasound Obstet Gynecol. 2007;29:192-194. 14. McCarthy J, Thurmond AS, Jones MK, et al. Circumvallate placenta: sonographic diagnosis. J Ultrasound Med. 1995;14:21-26. 15. Sherer DM, Smith SS, Metlay LA, et al. Sonographic and pathologic features of a circumvallate placenta associated with early amnion rupture. J Clin Ultrasound. 1991;19:241-243. 16. Harris RD, Wells WA, Black WC, et al. Accuracy of prenatal sonography for detecting circumvallate placenta. AJR Am J Roentgenol. 1997;168:1603-1608.

104 

Cord Cysts

Freddy J. Montero and Karin M. Fuchs INTRODUCTION

Etiology and Pathophysiology

The widespread use of high-resolution ultrasound (US) in routine obstetric care has led to greater detection of placental and umbilical cord abnormalities.1,2 Cysts of the umbilical cord have been reported in the first through third trimesters. The clinical significance and prognosis of cord cysts vary depending on the gestational age at diagnosis, persistence of the cyst, and associated structural or chromosomal abnormalities.2–5

Most first-trimester cord cysts are transient, disappearing by 14 weeks’ gestation; they impose no additional risk to the pregnancy.6 Umbilical cord cysts can be classified as either true cysts or pseudocysts.4,5 True cysts develop from the remnants of the allantois or omphalomesonephric duct.7 Histologically, they are lined by either columnar, mucin-secreting cells (omphalomesonephric) or cuboidal cells resembling transitional epithelium (allantoic) or amniotic epithelium (amniotic).4 Umbilical cord cysts are located more frequently at the fetal abdominal cord insertion site and range in size from 4 to 60 mm.5,7 Pseudocysts are encountered more frequently than true cysts and generally are located near the fetal end of the umbilical cord as well. They contain no epithelial lining and represent mucinous degeneration or localized edema of Wharton jelly.4 Differentiation between a true cyst and a pseudocyst on US is impossible because both manifest as anechoic structures primarily located toward the fetal cord insertion site.4 Regardless of the histologic diagnosis, both true cysts and pseudocysts are associated with congenital anomalies and aneuploidy. Cysts occur singly or multiply, related either axially or paraxially to the umbilical vessels.5

DISEASE Definition A cord cyst is defined as an echolucent area within the umbilical cord.5

Prevalence and Epidemiology First-trimester umbilical cord cysts have been reported to occur in 0.4% to 3.4% of pregnancies.3,5 Most cysts (85% to 100%) that are diagnosed in early pregnancy resolve by 12 to 14 weeks’ gestation and are not associated with an adverse pregnancy outcome.3,5

CHAPTER 104  Cord Cysts 489

A

B FIGURE 104-1.  A and B, Umbilical cord cysts. Note lack of flow in the cyst using color Doppler in B.

Skibo et al.3 published a series of eight cases in which cystic masses of the umbilical cord were noted at 8 to 9 weeks’ gestation. Five cases were followed to term. All cases resulted in a normal outcome, with both the neonate and the umbilical cord appearing normal on physical examination. Seven cysts had resolved by 12 weeks’ gestation.3 Smith et al.4 reported three cases of prenatally diagnosed umbilical cord cysts. One case resolved spontaneously at 13 weeks’ gestation, and a normal neonate was delivered at term.4 Sepulveda et al.6 reported 10 cases of umbilical cord cysts diagnosed in the first trimester, with complete resolution in all cases. A series published by Ross et al.5 showed that 7 of 27 fetuses (26%) with first-trimester cord cysts had structural or chromosomal abnormalities, including 2 fetuses with trisomy 18 and one case each of arthrogryposis, obstructive uropathy, cystic hygroma, anencephaly, and omphalocele. Four of the seven abnormal fetuses showed umbilical cord cysts beyond 12 weeks’ gestation, and the authors concluded that persistence of the cyst into the second trimester is a poor prognostic sign.5

Manifestations of Disease Clinical Presentation Umbilical cord cysts are diagnosed during US examination at any time during pregnancy. Imaging Technique and Findings Ultrasound Cord cysts are anechoic structures, located within the fetal umbilical cord. These lesions do not show blood flow on color Doppler US. They can range in size from 4 to 60 mm and can be located anywhere along the length of the umbilical cord, although most are located near the fetal end. Cord cysts can be axial, or within the center of the cord, displacing the umbilical vessels, or paraxial, or on the periphery (Figure 104-1).

3. Allantoic cysts 4. Hematomas

SYNOPSIS OF TREATMENT OPTIONS At the present time, there are no prenatal or postnatal treatment options for fetuses with umbilical cord cysts. The presence of an umbilical cord cyst should prompt a thorough search for other structural malformations.8 If the cyst persists beyond the first trimester, or if any associated structural defects are diagnosed, amniocentesis should be recommended to assess fetal karyotype. The prognosis for fetuses without additional US or chromosomal abnormalities is excellent.8 At birth, a meticulous physical examination of the neonate and umbilical cord is indicated. WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW Cord cysts may be found in the first through the third trimester and should prompt a complete detailed fetal evaluation for structural anomalies. Patients should be counseled and offered genetic amniocentesis if the cyst persists into the second trimester or other anomalies are present. When other studies are negative, the prognosis is generally good.

KEY POINTS • Cord

cysts manifest as an anechoic structure within the umbilical cord.

• Most

cord cysts seen in the first trimester resolve by 12 to 14 weeks’ gestation.

• If

a cord cyst is seen in the second or third trimester or if additional US malformations are noted, fetal karyotype analysis should be recommended.

DIFFERENTIAL DIAGNOSIS FROM IMAGING FINDINGS

▶ SUGGESTED READING

The differential diagnosis for umbilical cord cystic masses includes the following7: 1. True cysts 2. Pseudocysts

Ghezzi F, Raio L, Di Naro E, et al. Single and multiple umbilical cord cysts in early gestation: two different entities. Ultrasound Obstet Gynecol. 2003;21:215-219. Sepulveda W. Opinion: Beware of the umbilical cord “cyst.” Ultrasound Obstet Gynecol. 2003;21:213-214.

490 PART 10  PLACENTA AND CORD Weissman A, Drugan A. Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies. Ultrasound Obstet Gynecol. 2001;17:536-541. Zangen R, Boldes R, Yaffe H, et al. Umbilical cord cysts in the second and third trimesters: significance and prenatal approach. Ultrasound Obstet Gynecol. 2010;36:296-301.

REFERENCES 1. Sepulveda W, Gutierrez J, Sanchez J, et al. Pseudocyst of the umbilical cord: prenatal sonographic appearance and clinical significance. Obstet Gynecol. 1999;93:377. 2. Zangen R, Boldes R, Yaffe H, et al. Umbilical cord cysts in the second and third trimesters—the significance and prenatal approach. Ultrasound Obstet Gynecol. 2010;36:296.

CHAPTER

3. Skibo LK, Lyons EA, Levi CS. First-trimester umbilical cord cysts. Radiology. 1992;182:719. 4. Smith GN, Walker M, Johnston S, et al. The sonographic finding of persistent umbilical cord cystic masses is associated with lethal aneuploidy and/or congenital anomalies. Prenat Diagn. 1996;16:1141. 5. Ross JA, Jurkovic D, Zosmer N, et al. Umbilical cord cysts in early pregnancy. Obstet Gynecol. 1997;89:442. 6. Sepulveda W, Leible S, Ulloa A, et al. Clinical significance of first trimester umbilical cord cysts. J Ultrasound Med. 1999;18:95. 7. Bianchi DW, Crombleholme TM, D’Alton ME, et al. Fetology: Diagnosis and management of the fetal patient. 2nd ed. New York: McGraw-Hill; 2010. 8. Weissman A, Drugan A. Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies. Ultrasound Obstet Gynecol. 2001;17:536.

105 

Cord Varix

Freddy J. Montero and Karin M. Fuchs INTRODUCTION Umbilical vein varix (UVV) is a rare idiopathic dilatation of the umbilical vein, either within the intraamniotic portion of the umbilical cord or within the fetal abdomen.1 The clinical significance of this finding is unclear.2

DISEASE Prevalence and Epidemiology UVV is a rare entity, representing approximately 4% of umbilical cord malformations.3 In a retrospective review, Byers et al.4 reported an incidence of 1.1 : 1000 pregnancies. These lesions have been reported more commonly in the umbilical cord than in the fetus. In cases of intraabdominal UVVs, extrahepatic varices are more common than intrahepatic varices.5,6

Etiology and Pathophysiology The etiology of UVV is unknown. It has been speculated that any condition that increases venous pressure could potentially lead to dilatation of the extrahepatic portion of the umbilical vein because this anatomic region is the weakest area of umbilical circulation.4

Manifestations of Disease Clinical Presentation UVV can be diagnosed during ultrasound (US) examination at any time during pregnancy. Imaging Technique and Findings Ultrasound On US, UVV appears as a round or fusiform, anechoic, cystic structure within the umbilical cord or in the fetal

abdomen, inferior to the fetal liver and close to the anterior abdominal wall.1,6 Color flow, power Doppler, and pulsed wave Doppler US are useful to confirm the vascular nature of this lesion by showing venous flow in its lumen (Figures 105-1 and 105-2).2,7,8 UVV is associated with a high rate of fetal anomalies and intrauterine fetal demise, but published series report large differences in fetal outcome. Sepulveda et al.9 reported 10 cases of UVV and found 30% were associated with additional US malformations—20% with aneuploidy and 40% with intrauterine fetal demise.9 In a review of published literature, Zalel et al.2 concluded that UVV was associated with a fetal mortality rate of 22.7%, aneuploidy in 11.4%, and hydrops fetalis in 9%.2 Rahemtullah et al.6 published a retrospective review of 25 cases of UVV; 35% had associated structural malformations, and 4% had chromosomal abnormalities. Fung et al.10 published a case series of 13 fetuses and included 80 additional cases previously reported in the literature. In their study, the authors detected a 31.9% rate of associated structural malformations, a 9.9% rate of aneuploidy, and 13% perinatal loss rate. Normal outcomes were observed in 59.3% of cases. Intrauterine demise occurred between 29 weeks’ and 38 weeks’ gestation in 81% of fetuses with isolated UVV.10 In the largest case series to date, Byers et al.4 identified 52 cases of UVV and recorded their outcomes. The authors found chromosomal abnormalities in 5.8% of fetuses; 28.8% showed additional US abnormalities. No cases of intrauterine pregnancy loss were reported.4

DIFFERENTIAL DIAGNOSIS FROM IMAGING FINDINGS Differential diagnosis for UVV includes the following4: 1. Normal structures such as the gallbladder or stomach 2. Pathologic cystic lesions such as urachal cysts, duplication cysts, or mesenteric cysts

CHAPTER 105  Cord Varix 491

A

B

C

FIGURE 105-1.  A, Axial image of the fetal abdomen shows intraabdominal cystic dilatation of the umbilical vessel. B, Color Doppler image confirms vascular flow within intraabdominal cystic dilatation of the umbilical vessel. C, Pulsed Doppler image confirms venous flow within the intraabdominal umbilical vein varix.

492 PART 10  PLACENTA AND CORD

1

A

UmbV-Vel

B

FIGURE 105-2.  A, Gray-scale and color Doppler images show extraabdominal cystic dilatation of the umbilical vessel. B, Pulsed Doppler image confirms venous flow within the extraabdominal umbilical vein varix.

3. Other cystic masses originating from the cord such as true cysts or pseudocysts

SYNOPSIS OF TREATMENT OPTIONS At the present time, there are no prenatal or postnatal treatment options for fetuses with UVV. The presence of UVV should prompt a thorough search for other structural malformations and should prompt obstetricians to sus­­ pect aneuploidy.4 If additional screening reveals structural abnormalities, fetal karyotype analysis is recommended because aneuploidy rates of 27.6% have been reported.10

Reported risks of intrauterine fetal demise in cases of UVV are disparate. Mortality ranges from 0% to 44%.11 Because of the increased risk of fetal death, even in cases with isolated UVV, serial growth measurements and prenatal surveillance are recommended. There is no consensus at the present time regarding recommendations for management strategies. Weissman-Brenner et al.1 proposed the most detailed management plan to date, recommending weekly prenatal ultrasound scans with Doppler assessment of the UVV, starting at the time of diagnosis to 28 weeks, and fetal cardiac monitoring, followed by twice-weekly US. Additionally, the authors recommended early delivery at 36

CHAPTER 106  Gestational Trophoblastic Disease 493 to 37 weeks’ gestation, after confirmation of fetal lung maturity, based on previous reports of fetal demise in the third trimester despite close monitoring.1,11

KEY POINTS • UVV

is a rare abnormality of the cord associated with structural malformations, aneuploidy, and intrauterine fetal death.

• A

detailed anatomic survey and amniocentesis should be considered.

• Prenatal

surveillance and early delivery after lung maturity testing are recommended.

▶ SUGGESTED READING Byers BD, Goharkhay N, Mateus J, et al. Pregnancy outcome after ultrasound diagnosis of fetal intra-abdominal umbilical vein varix. Ultrasound Obstet Gynecol. 2009;33:282-286. Fung TY, Leung TN, Leung TY, et al. Fetal intra-abdominal umbilical vein varix: what is the clinical significance? Ultrasound Obstet Gynecol. 2005;25:149-154. Mankuta D, Nadjari M, Pomp G. Isolated fetal intra-abdominal umbilical vein varix: clinical importance and recommendations, J Ultrasound Med. 2011;30:273-276. Weissmann-Brenner A, Simchen MJ, Moran O, et al. Isolated fetal umbilical vein varix—prenatal sonographic diagnosis and suggested management. Prenat Diagn. 2009;29:229-233.

CHAPTER

REFERENCES 1. Weissman-Brenner A, Simchen M, Moran O, et al. Isolated fetal umbilical vein varix—prenatal sonographic diagnosis and suspected management. Prenat Diagn. 2009;29:229. 2. Zalel Y, Lehavi O, Heifetz S, et al. Varix of the fetal intra-abdominal umbilical vein: prenatal sonographic diagnosis and suggested in utero management. Ultrasound Obstet Gynecol. 2000;16:476. 3. Konstantinova B. Malformations of the umbilical cord. Acta Genet Med Gemellol. 1977;26:259. 4. Byers BD, Goharkhay N, Mateus J, et al. Pregnancy outcome after ultrasound diagnosis of fetal intra-abdominal vein varix. Ultrasound Obstet Gynecol. 2009;33:282. 5. Jeanty P. Fetal and funicular vascular anomalies: identification with prenatal US. Radiology. 1989;173:367. 6. Rahemtullah A, Lieberman E, Benson C, et al. Outcome of pregnancy after prenatal diagnosis of umbilical vein varix. J Ultrasound Med. 2001;20:135. 7. Viora E, Sciarrone A, Bastonero S, et al. Thrombosis of the umbilical vein varix. Ultrasound Obstet Gynecol. 2002;19:212. 8. Ipek A, Kurt A, Tosun O, et al. Prenatal diagnosis of fetal intraabdominal umbilical vein varix: report of 2 cases. J Clin Ultrasound. 2008;36:48. 9. Sepulveda W, Mackenna A, Sanchez J, et al. Fetal prognosis in varix of the intrafetal umbilical vein. J Ultrasound Med. 1998;17:171. 10. Fung TY, Leung TN, Leung TY, et al. Fetal intra-abdominal umbilical vein varix: what is the clinical significance? Ultrasound Obstet Gynecol. 2005;25:149. 11. Valsky DV, Rosenak D, Hochner-Celnikier D, et al. Adverse outcome of isolated fetal intra-abdominal umbilical vein varix despite close monitoring. Prenat Diagn. 2004;24:451.

106 

Gestational Trophoblastic Disease

Jaclyn M. Coletta, Sharyn N. Lewin, and Mary E. D’Alton INTRODUCTION Gestational trophoblastic disease (GTD) is a disorder arising from the trophoblastic epithelium of the placenta and resulting in aberrant proliferation.1 There are several distinct types of GTD, which are distinguished histologically. These include complete and partial hydatidiform mole, persistent or invasive gestational trophoblastic neoplasia (GTN), placental site trophoblastic tumor (PSTT), and choriocarcinoma.1 Choriocarcinoma is addressed in Chapter 102.

DISEASE Prevalence and Epidemiology The incidence of GTD varies in different regions of the world.2,3 In the United States, the incidence of hydatidiform

mole is 1 : 1000 to 1 : 1500 pregnancies.2 The two main risk factors are maternal age (increased risk in mothers >35 years old and 97th percentile), macroglossia (hyperplasia of muscle fibers, normal histology21), visceromegaly (liver, kidneys, adrenal glands, pancreas, spleen), ear pits or creases, facial dysmorphology (midfacial hypoplasia, mandibular hypoplasia), and hemihyperplasia (abnormality of cell proliferation resulting in asymmetric overgrowth). Overgrowth is usually present at birth in affected individuals16 and worsens over time. The increase in size continues through early childhood and decreases with increasing age so that adults with BWS are of normal size.22 *References 4, 6, 7, 9, 10, 16, 18, 19, and 20.

510 PART 11  FETAL GROWTH

Dist  3.19 cm Dist  3.43 cm

FIGURE 111-1.  Inferior coronal view of macroglossia in a fetus with macrosomia and enlarged kidneys at 30 weeks’ gestation. Initial referral was for elevated maternal alpha-fetoprotein. Prenatal suspicion of BWS was confirmed postnatally.

FIGURE 111-2.  Sagittal profile view of the same fetus shown in Figure 111-1 with protruding tongue.

2. Histopathology includes diffuse adrenal cytomegaly, pancreatic beta islet cell hyperplasia, and nephro­ blastomatosis.9 3. Structural fetal anomalies include omphalocele or other umbilical abnormalities (60%), renal anomalies (medullary dysplasia, cystic changes, diverticula, nephromegaly), and rarely cardiac anomalies and cleft palate. 4. Neonatal metabolic issues are hypoglycemia and hyperinsulinism that occasionally persists for a few months, nephrocalcinosis and hypercalciuria, polycythemia, and less commonly hypothyroidism. 5. Neoplasia is increased. Children with BWS are at increased risk for embryonal tumors, particularly Wilms tumor and hepatoblastoma but also neuroblastoma, adrenocortical carcinoma, and rhabdomyosarcoma. Tumors rarely develop after age 10. Of tumors, 40% are associated with hemihypertrophy. 6. Normal intellectual and social development occurs unless there is an underlying chromosomal anomaly.22 7. Perinatal mortality of 10% to 20% is related to prematurity and fetal anomalies. Imaging Technique and Findings Ultrasound Since the first case of prenatal diagnosis of BWS was reported in 1980,5 about 20 cases have been reported. In most cases, macrosomia in the second or third trimester, macroglossia,9,10 enlarged kidneys, and polyhydramnios are the suggestive findings. When omphalocele is present (50% to 80% of cases), the diagnosis can be suspected at 12 weeks’ gestation. However, less than 3% of omphaloceles are caused by BWS16 (5% to 20% if isolated and normal karyotype). Macroglossia in children is defined as protrusion of a resting tongue beyond the teeth or alveolar ridge.23 The diagnosis of macroglossia prenatally is subjective,21 although nomograms of the tongue size in the first and second trimester have been published.24,25 The fetal tongue can be seen on ultrasound (US) in an inferior coronal view of the fetal face and in the sagittal profile view (Figures 111-1 and 111-2). A persistently protruding tongue in the absence of a discrete mass is con­ sistent with macroglossia (Figure 111-3). Placentomegaly with cysts within the placenta is a common feature

FIGURE 111-3.  Three-dimensional image of the same fetus shown in Figure 111-1 with macroglossia.

(Figure 111-4). Normal placental thickness in millimeters is usually equal to the number of weeks ± 10 mm.26 Nephromegaly (renal length >90th percentile) is present in 65% of cases16 with increased echogenicity of the kidneys (Figure 111-5). Renal anomalies are seen in 50% of these cases. Fetal kidneys are considered echogenic if the reflectivity of the parenchyma is greater than that of the liver. Polyhydramnios is found in 50% to 60% of cases9,10 likely as a result of impaired fetal swallowing by the enlarged tongue. Prenatal diagnosis of intraabdominal tumors is limited to a

CHAPTER 111  Beckwith-Wiedemann Syndrome 511

Dist  3.58 cm

Dist  9.59 cm

FIGURE 111-6.  Omphalocele.

FIGURE 111-4.  Placentomegaly in the same fetus shown in Figure 111-1.

DIFFERENTIAL DIAGNOSIS FROM IMAGING FINDINGS

2.43 cm 2.70 cm

FIGURE 111-5.  Enlarged echogenic kidneys in the same fetus shown in Figure 111-1.

few case reports including a pancreatoblastoma and bilateral adrenal carcinoma.27,28 Magnetic Resonance Imaging Magnetic resonance imaging (MRI) may be useful to characterize renal, adrenal, or pancreatic tumors if they are suspected. Other Applicable Modality Increased nuchal translucency with omphalocele (Figure 111-6) was reported in one fetus with BWS.29 Alphafetoprotein may be elevated in BWS with or without omphalocele.30 CLASSIC SIGNS Macrosomia Macroglossia Enlarged kidneys Polyhydramnios Enlarged cystic placenta Omphalocele

1. Macrosomia: Wrong dates; diabetes; and other overgrowth disorders7 such as Simpson-Golabi-Behmel syndrome (X-linked recessive condition), Perlman syndrome (rare autosomal recessive condition), Costello syndrome (unknown etiology, sporadic), and Sotos syndrome (autosomal dominant) need to be considered. 2. Macroglossia21,31: The overall incidence of fetal macroglossia is estimated to be 1 : 11,000 to 1 : 25,000.21 Macroglossia can be seen in trisomy 21 (other stigmata of Down syndrome should be sought); congenital hypothyroidism (goiter should be present); mucopolysaccharidoses; vascular or lymphatic malformations; and tumors such as rhabdomyoma, dermoid cysts, hemangioma, and lymphangioma. 3. Placentomegaly: Placentomegaly is also associated with fetal hydrops, maternal diabetes with fetal macrosomia, triploidy, and molar pregnancy. Only triploidy and molar pregnancy have the same cystic appearance. 4. Omphalocele: Omphalocele is often associated with other anomalies and a 30% incidence of aneuploidy. Aneuploidy is more common when there is no liver herniation. It is also seen in other syndromes such as pentalogy of Cantrell, cloacal exstrophy, and Meckel-Gruber syndrome. 5. Nephromegaly: Nephromegaly is also seen in polycystic kidneys and Meckel-Gruber syndrome. Echogenic kidneys can be seen with renal dysplasia and cytomegalovirus infection, but in these cases the kidneys are normal in size.

SYNOPSIS OF TREATMENT OPTIONS Prenatal There are no treatment options for BWS prenatally. When BWS is suspected, investigations should include fetal echocardiography and amniocentesis for karyotype, aCGH (array comparative genomic hybridxation), and methylation studies. A consultation with a pediatric surgeon is indicated if there is an omphalocele. Macroglossia may result in airway obstruction at birth, and consultation with a pediatric otolaryngologist is advisable. In certain cases, ex utero intrapartum treatment (EXIT) may be considered.

512 PART 11  FETAL GROWTH A neonatologist should be consulted to discuss special neonatal management considerations with the family. Serial prenatal US scans are done to monitor fetal growth and amniotic fluid level. Pregnancies with BWS are at increased risk of premature labor and delivery, with or without polyhydramnios. Delivery should occur in a tertiary center with the neonatal team present and a pediatric otolaryngologist readily available to help manage airway obstruction and intubation difficulties. Tracheostomy is sometimes required.

Postnatal The immediate concern after delivery of a neonate with BWS is assessment of airway sufficiency. Other possible problems requiring evaluation and treatment include hyperinsulinism and hypoglycemia and other metabolic problems (polycythemia, nephrocalcinosis, hypothyroidism) and feeding difficulties. Surgical repair of omphalocele and imaging of intraabdominal organs to rule out organomegaly, malformations, or tumors may be required. Longterm follow-up requires a multidisciplinary approach including a craniofacial team, endocrinology, orthopedic surgery (if hemihyperplasia and limb asymmetry are present), medical genetics, and urology.19 Screening for embryonal tumors with abdominal US is performed on a regular schedule until age 8 years. Alpha-fetoprotein is measured in the first few years of life to screen for hepatoblastoma. KEY POINTS • BWS

is a congenital overgrowth syndrome affecting 0.07 : 1000 births.

• The

genetic inheritance of BWS is complex and involves imprinting anomalies of genes at chromosome 11p15.5.

• An

abnormal karyotype is uncommon (2.7) or notching or both in the uterine arteries in the late second and third trimesters is abnormal and has been used as a

FIGURE 112-7.  Normal umbilical artery pattern.

FIGURE 112-8.  Worsening umbilical artery pattern—elevated S/D ratio.

screening tool for pregnancy complications. Abnormalities in uterine artery blood flow generally precede abnormal umbilical blood flow. umbilical artery  Doppler of the umbilical artery is not useful as a screening tool for IUGR in normal pregnancies.15 Its primary utility is in the evaluation and management of a growth-restricted fetus. Normal umbilical artery flow mi­­rrors uterine artery flow and shows progressive increases in diastolic flow after 18 weeks’ gestation leading to a decreasing S/D ratio over the course of the pregnancy. Normal S/D ratio is less than 3.5 in preterm fetuses and less than 2.5 at term (Figure 112-7). Worsening blood flow is reflected by increasing S/D ratio, with eventual absent enddiastolic flow and reversal of diastolic flow (Figures 112-8 through 112-10). middle cerebral artery  The middle cerebral artery is normally a high-impedance bed with low end-diastolic flow (i.e., the opposite of the umbilical artery) (Figures 112-11 and 112-12). The increase in diastolic blood flow secondary to redistribution of blood flow to the brain with fetal hypoxemia leads to asymmetric growth of the head circumference relative to the abdominal circumference (Figure 112-13). Gestational age–dependent nomograms are widely available. The cerebral-to-umbilical ratio provides a quick assessment of blood flow without nomograms.18 The resistance of the cerebral circulation should always be higher than the umbilical resistance (ratio >1). Ratios less than 1 signify brain sparing.

CHAPTER 112  Intrauterine Growth Restriction 517

FIGURE 112-9.  Umbilical artery—absent end-diastolic flow.

FIGURE 112-10.  Umbilical artery—reverse end-diastolic flow.

FIGURE 112-12.  Normal middle cerebral artery waveform.

FIGURE 112-13.  Brain sparing with increase in diastolic flow.

FIGURE 112-11.  Middle cerebral artery anatomy.

FIGURE 112-14.  Umbilical vein pulsations.

venous doppler  Venous backflow during atrial contraction (tricuspid regurgitation) is most predictive of metabolic acidemia and signifies myocardial dysfunction and progressive fetal decompensation. Reversal of flow can be detected in the inferior vena cava and ductus venosus and progresses to umbilical vein pulsations (Figure 112-14). Venous Doppler changes occur in more than 50% of cases before an abnormal biophysical profile and nonstress test. The addition of venous Doppler studies to the fetal

examination improves the prediction of fetal acidemia and stillbirth. CLASSIC SIGNS Presence of lagging abdominal circumference Oligohydramnios in the setting of intact membranes and normal fetal kidneys

518 PART 11  FETAL GROWTH

DIFFERENTIAL DIAGNOSIS FROM IMAGING STUDIES The distinction between a normally grown fetus with inaccurate dating and a compromised fetus can be difficult, especially in the late second trimester and third trimester. The presence of fetal anomalies warrants further evaluation for aneuploidy and infection and a fetal echocardiogram to exclude cardiac abnormalities. The presence of oligohydramnios should be investigated further by a sterile speculum examination and amniocentesis with dye injection if appropriate. In the absence of ruptured membranes or fetal renal abnormalities, oligohydramnios is highly associated with growth restriction and perinatal mortality and morbidity. The presence of Doppler abnormalities of the uterine, umbilical, or middle cerebral artery strengthens the diagnosis of IUGR, but the absence of Doppler abnormalities does not preclude the diagnosis because there is a continuum seen. Follow-up growth evaluations or Doppler studies are often necessary to confirm the diagnosis. After the diagnosis is made, follow-up US scans are necessary for surveillance and management. Close follow-up of the mother is also necessary because the abnormal fetal growth pattern may be an early manifestation of preeclampsia.

SYNOPSIS OF TREATMENT Prenatal Growth restriction from etiologies intrinsic to the fetus cannot be treated or reversed. Severe IUGR secondary to placental dysfunction is generally progressive, and there is no definitive treatment to reverse or halt the process. Smoking cessation before the third trimester has been associated with increase in birth weight.19,20 Controversy exists regarding whether low-dose aspirin in midpregnancy can reverse the process after abnormal uterine artery Doppler signals have been identified.21 The mainstay of treatment is timing of delivery, which is the balance of prematurity versus continued intrauterine life and death. Steroids are indicated before 34 weeks’ gestation in anticipation of delivery. Doppler studies have been shown to decrease the risk of intrauterine fetal demise and should be used in conjunction with nonstress tests and biophysical profiles.22,23

Postnatal Postnatal morbidity and mortality are directly related to fetal weight, gestational age, and the underlying etiology. Generally, the smaller the fetus, the higher the risk of complications. The compensatory changes and redistribution of blood flow to vital organs in response to hypoxia and nutrient deficiency contribute to prenatal and postnatal morbidity. Prenatal oligohydramnios correlates with postnatal oliguria and renal dysfunction. The decrease in blood flow to the large and small bowel increases the risk of necrotizing enterocolitis. The changes in cerebral perfusion increase the risk of intraventricular hemorrhage, periventricular leukomalacia, and cerebral infarction. The worsening cardiac decompensation from acidemia and hypoxia, which lead to prenatal venous Doppler changes, contribute to postnatal myocardial ischemia, cardiac dysfunction, and right-sided

heart failure. The increased perfusion of the liver through the ductus venosus leads to postnatal liver dysfunction and transaminitis. The neonate is also at increased risk of hypoxia-induced polycythemia through diminished blood flow to the bone marrow, which may also cause thrombocytopenia and leukopenia, leading to an increased risk of infection. Neuroendocrine changes also occur and contribute to the elevated risk of insulin resistance, central adiposity, and type 2 diabetes, especially in the setting of rapid postnatal catch-up growth.3 The lifelong risks of impaired fetal growth, particularly of cardiovascular disease, have led to the theory of fetal origin of adult-onset disease (Barker hypothesis) and strengthen the need for further research and potentially interventions to improve fetal growth.1,2 WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW • The

earliest US scan available should be used to establish dates if the last menstrual period is unreliable. After dates are established, they should not be changed because later US scans are more a reflection of growth and not gestational age.

• A

targeted US scan is recommended to evaluate the fetus for anomalies if growth restriction is suspected.

• The

presence of lagging abdominal circumference and oligohydramnios in the setting of intact membranes and normal fetal kidneys is highly suspicious of growth restriction.

• Doppler

studies are useful in the management of growth restriction and have been shown to decrease the risk of fetal demise.

• Absent

or reverse end-diastolic flow in the umbilical artery is an indication for steroids in the preterm fetus and delivery in the term fetus.

• Pulsations

in the umbilical vein may be a preterminal

condition.

KEY POINTS • There

are multiple etiologies for IUGR, and a thorough patient history and physical examination are important to identify risk factors.

• There

are both short-term and long-term risks of IUGR.

• Ultrasound,

Doppler velocimetry, and antenatal testing are useful in determining the appropriate timing of delivery.

▶ SUGGESTED READING Baschat AA. Fetal growth restriction—from observation to intervention. J Perinat Med. 2010;38:239-246. Mari G. Doppler ultrasonography in obstetrics: from the diagnosis of fetal anemia to the treatment of intrauterine growth-restricted fetuses. Am J Obstet Gynecol. 2009;200:589-596. Zhang J, Merialdi M, Platt LD, et al. Defining normal and abnormal fetal growth: promises and challenges. Am J Obstet Gynecol. 2010; 202:522-528.

REFERENCES 1. Barker DJ. Early growth and cardiovascular disease. Arch Dis Child. 1999;80:305-307.

CHAPTER 112  Intrauterine Growth Restriction 519 2. Barker DJ. Fetal origins of coronary heart disease. BMJ. 1995;311:171-174. 3. Phillips DI, Barker DJ, Hales CN, et al. Thinness at birth and insulin resistance in adult life. Diabetologia. 1994;37:150-154. 4. McIntire DD, Bloom SL, Casey BM, et al. Birth weight in relation to morbidity and mortality among newborn infants. N Engl J Med. 1999;340:1234-1238. 5. Bernstein IM, Horbar JD, Badger GJ, et al. Morbidity and mortality among very-low-birth-weight neonates with intrauterine growth restriction. The Vermont Oxford Network. Am J Obstet Gynecol. 2000;182:198-206. 6. Selling KE, Carstensen J, Finnstrom O, et al. Intergenerational effects of preterm birth and reduced intrauterine growth: a populationbased study of Swedish mother-offspring pairs. BJOG. 2006;113: 430-440. 7. Salafia CM. Placental pathology of fetal growth restriction. Clin Obstet Gynecol. 1997;40:740-749. 8. Scifres CM, Nelson DM. Intrauterine growth restriction, human placental development and trophoblast cell death. J Physiol. 2009; 587:3453-3458. 9. Dugoff L, Lynch AM, Cioffi-Ragan D, et al. FASTER Trial Research Consortium. First trimester uterine artery Doppler abnormalities predict subsequent intrauterine growth restriction. Am J Obstet Gynecol. 2005;193:1208-1212. 10. Gomez O, Maritinez JM, Figueras F, et al. Uterine artery Doppler at 11-14 weeks of gestation to screen for hypertensive disorders and associated complications in an unselected population. Ultrasound Obstet Gynecol. 2005;26:490-494. 11. Papageorghiou AT, Yu CK, Erasmus IE, et al. Assessment of risk for the development of pre-eclampsia by maternal characteristics and uterine artery Doppler. BJOG. 2005;112:703-709. 12. Cnossen J, Morris R, Riet G, et al. Use of uterine artery Doppler ultrasonography to predict preeclampsia and intrauterine growth restriction: a systematic review and bivariable meta-analysis. CMAJ. 2008;178:701-711.

13. Baschat AA. Doppler application in the delivery timing of the preterm growth-restricted fetus: another step in the right direction. Ultrasound Obstet Gynecol. 2004;23:111-118. 14. Alfirevic Z, Stampalija T, Gyte GM. Fetal and umbilical Doppler ultrasound in high-risk pregnancies. Cochrane Database Syst Rev. 2010;(1):CD007529. 15. Alfirevic Z, Stampalija T, Gyte GM. Fetal and umbilical Doppler ultrasound in normal pregnancy. Cochrane Database Syst Rev. 2010;(8):CD001450. 16. Mari G, Deter RL. Middle cerebral artery flow velocity waveforms in normal and small-for-gestational-age fetuses. Am J Obstet Gynecol. 1992;166:1262-1270. 17. Thompson RS, Trudinger BJ, Cook CM. Doppler ultrasound waveform indices: AB ratio, pulsatility index and Pourcelot ratio. Br J Obstet Gynaecol. 1988;95:589-591. 18. Bahado-Singh RO, Kovanci E, Jeffres A, et al. The Doppler cerebroplacental ratio and perinatal outcome in intrauterine growth restriction. Am J Obstet Gynecol. 1999;180:750-756. 19. Vardavas CI, Chatzi L, Patelarou E, et al. Smoking and smoking cessation during early pregnancy and its effect on adverse pregnancy outcomes and fetal growth. Eur J Pediatr. 2010;169:741-748. 20. Polakowski LL, Akinbami LJ, Mendola P. Prenatal smoking cessation and the risk of delivering preterm and small-for-gestational-age newborns. Obstet Gynecol. 2009;114:318-325. 21. Bujold E, Morency AM, Roberge S, et al. Acetylsalicylic acid for the prevention of preeclampsia and intra-uterine growth restriction in women with abnormal uterine artery Doppler: a systematic review and meta-analysis. J Obstet Gynaecol Can. 2009;31:818-826. 22. Arduini D, Rizzo G, Romanini C. Changes of pulsatility index from fetal vessels preceding the onset of late decelerations in growthretarded fetuses. Obstet Gynecol. 1992;79:605-610. 23. Baschat AA, Gembruch U, Weiner CP, et al. Qualitative venous Doppler waveform analysis improves prediction of critical perinatal outcomes in premature growth-restricted fetuses. Ultrasound Obstet Gynecol. 2003;22:240-245.

PART

12

Procedures CHAPTER

113 

Amniocentesis

Joy Vink and Melissa Quinn INTRODUCTION Amniocentesis is a procedure in which a needle is used to withdraw transabdominally amniotic fluid from the amniotic sac. “Early amniocentesis” (