Structural Fetal Abnormalities, The Total Picture, 2nd Edition

Structural Fetal Abnormalities

2nd Edition The Total Picture

By Roger C. Sanders, MD, Research Professor of Radiology, Thomas Jefferson University School of Medicine, Philadelphia, PA; Consultant at Los Alamos Women's Health Center, Los Alamos, NM; Clinical Professor of Radiology, University of New Mexico, Albuquerque, NM; Lillian R Blackman, MD, Associate Professor of Pediatrics, University of Maryland School of Medicine, Department of Perinatology/Neonatology, University of Maryland Medical Center, Baltimore, MD; W. Allen Hogge, MD, Associate Professor, Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh school of Medicine, Medical Director, Department of Genetics, Magee-Women's Hospital, Pittsburgh, PA; Eric A. Wulfsberg, MD, Professor of Pediatrics, University of Maryland School of Medicine, Department of Human Genetics and Pediatrics, University of Maryland Medical Center, Baltimore, MD; and Philip Spevak, MD, Associate Professor, The Johns Hopkins University School of Medicine, Division of Cardiology, Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, MD


Chromosomes
1. Triploidy
2. Trisomy 13
3. Trisomy 18
4. Trisomy 21
5. Turner Syndrome

Central Nervous System
6. Agenesis of the Corpus Callosum (ACC)
7. Acencephaly
8. Aqueductal Stenosis
9. Arachnoid Cyst
10. Cauda A/Dysplasia (Regression) Sequence
11. Cranial Tumors other than Intracranial Teratoma
12. Craniosynostosis
13. Dandy Walker Malformation
14. Diastematomyelia
15. Encephalocele
16. Holoprosencephaly
17. Hydranencephaly
18. Iniencephaly
19. Intracranial Hemorrhage
20. Intracranial Teratoma
21. Microcephaly
22. Porencephaly, and Schizencephaly
23. Spinal Dysraphism
24. Vein of Galen Malformation

Cardiac Entities
25. Transposition of the Great Arteries
26. Tetraology of Falott
27. Ebstein's Anomaly
28. Tricuspid Valve Atresia
29. Critical Valvar Pulmonary Stenosis and Pulmonary Atresia
30. Critical Valvar Aortic Stenosis
31. Hypoplastic Left Heart Syndrome
32. Aortic Coarctation
33. Ventricle Septal Defect
34. Atrioventricular Canal Defects
35. Truncus Arteriosus
36. Double Inlet Ventricle
37. Double Outlet Right Ventricle
38. Cardia Arrhythmias (tachycardia and extrasystoles)
39. Hypertrophic Cardiomyopathy
40. Heterotaxy Syndrome
41. Ectopia Cordis, Pentalogy of Cantrell

The Genitourinary Tract
42. Adrenal Hemorrage
43. Exstrophy of the Bladder
44. Cloacal Abnormalities
45. Hydronephrosis (Ureteropelvic Junction Obstruction (UPJ and Reflux)
46. Hydrocolpus, Hydrometrocolpus
47. Autosomal Recessive Polycystic Kidney Disease (Infantile Polycystic Kidney Disease)
48. Mesoblastic Nephroma
49. Multicystic (Dysplastic) Kidney
50. Neuroblastoma
51. Ovarian Cysts
52. Posterior Urethral Valves (PUV)
53. Renal Agenesis
54. Sacrococcygeal Teratoma (SCT)
55. Sirenomelia
56. Ureterocele

Chest
57. Cystic Adenomatoid Malformation of the Lung
58. Diaphragmatic Hernia
59. Esophageal Atresia
60. Pleural Effusion (Fetal Hydrothorax)
61. Pulmonary Sequestration
62. Tracheal/Laryngeal Atresia or Chaos (Congenital High Airway Obstruction Syndrome)

Gastrointestinal System
63. Anal Atresia (Imperforate Anus)
64. Duodenal Atresia
65. Gastrointestinal Atresia
66. Gastroschesis
67. Hepatic Tumors
68. Meconium Cyst (Peritonitis)
69. Meconium Ileus
70. Omphalocele

Neck and Face
71. Cleft Lip and Palate
72. Cystic Hygroma
73. Facial Asymmetry
74. Pierre Robin Syndrome
75. Thyroid Enlargement/Goiter
76. Treacher Collins Syndrome (Mandibulofacial Dysostosis (MFD))

Skeletal Abnormalities
77. Achondrogenesis
78. Achondroplasia
79. Amniotic Band Syndrom
80. Arthrogryposis
81. Campomelic Dysplasia
82. Club and Rocker-Bottom Feet (Vertical Talus)
83. Diastrophic Dysplasia
84. Focal Femoral Hypoplasia
85. Jeune Thoracic Dystrophy (Asphyxiating Thoracic Dystrophy)
86. Klippel Trenaunay Weber Syndrome (KTWS)
87. Limb Body Wall Complex (LBWC) (Body Stalk Complex, Cyllosomas)
88. Multiple Pteryguim Syndrome
89. Osteogenesis Imperfecta (OI)
90. Polydactyly
91. Radial Ray Problems (Radial Ray A/Hypoplasia)
92. Thanatophoric Dwarfism (Dysplasia)

Infections
93. Cytomegalic Inclusion Disease (CMV)
94. Parvovirus (Firth Disease)
95. Congenital Syphilis
96. Toxoplasmosis
97. Varicella Infection (Varicella-Zoster Virus)

Drugs
98. Fetal Alcohol Syndrome (FAS)
99. Anti-Seizure Drugs (Phenytoin, Carbamazephine, Valporic Acid and Phenobarbital)
100. Illegal Drugs (Cocaine, Heroine)

Syndromes
101. Beckwith Wiedermann Syndrome
102. Deletion 22Q11.2 Syndrome (DiGeorge Syndrome, Velocardiofacial Syndrome, Shprintzen Syndrome)
103. Fryns Syndrome
104. Meckel Gruber (Dysencephalia Splanchocystica)
105. Pena-Shoker Phenotype (Fetal Akinesia/Hypokinesia Sequence)
106. Smith-Lemli-Opitz Syndrome
107. Tuberous Sclerosis
108. Vacterl Association

Twins
109. Acardiac Twin (Acardiac Monster) Holoacardius Twin Reversed Arterial Perfusion Sequence (TRAP)
110. Conjoined Twins
111. Intrauterine Growth Restriction or Retardation (UIGR)
112. Monoamniotic Twins
113. Stuck Twin
114. Twin-Twin Transfusion

Miscellaneous Abnormalities
115. Chorioangioma
116. Non-Immune Hydrops Fetalis
117. Rhesus Imcompatibility

Abnormal Sonographic Findings
118. Amniotic Membranes
119. Cord Cyst
120. IUGR
121. Macrosomia
122. Oligohydramios
123. Polyhydramnios