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Birth Defects/Fetal Anomalies

Frequently Asked Questions


Birth Defects and Genetic Fetal Abnormalities 

Three percent of infant deliveries are associated with birth defects and genetic fetal anomalies.

Some of the fetal defects and abnormalities are the following:

What are some birth defects or genetic fetal abnormalities that you have seen?

Achondroplasia Jeune Syndrome
Achondrogenesis Meckel-Gruber syndrome
Agenesis of Corpus Callosum Megaureter
Amniotic constriction bands Microcephaly
Anencephaly Multicystic dysplastic kidneys
Asphyxiating thoracic dystrophy Myelomeningocele
Atrial septal defect Omphalocele
Beckwith-Wiedemann syndrome Osteogenesis imperfecta
Body Stalk anomaly Porencephaly
Congenital heart disease Prune Belly syndrome
Congenital polycystic kidneys Pulmonary hypoplasia
Congenital pulmonary lymphangiectasia Rachischisis
Congenital kidney diseases Renal agenesis
Congenital Dwarfism Rh Incompatibility
Craniofacial anomalies Spina bifida
Cystic Hygroma Schizencephaly
Cyclops Thanatophoric Dysplasia
Dandy Walker malformation Tetralogy of Fallot
Diaphragmatic hernia Thalassemia major
Duodenal atresia TORCH
Ectopia Cordis Total anomalous pulmonary venous drainage (TAPVD)
Encephalocele Truncus Arteriosus
Exencephaly Transposition of great vessels
Fetal alcohol syndrome Tricuspid atresia
Gastroschisis Trisomy 13 (Patau syndrome)
Holoprosencephaly Trisomy 18 (Edward syndrome)
Hydranencephaly Trisomy 21 (Down syndrome)
Hydrocephalus Turner Syndrome
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