Birth Defects Included in the Study

BD-STEPS collects information on babies who have at least one of 22 major birth defects. Researchers chose these 22 conditions because they can be severe, are more common, can have high health care use or costs, can be identified consistently across study sites, or because previous findings have warranted more in-depth research.

Birth Defects Studied in BD-STEPS by Body System Affected
Cardiovascular (Heart) Coarctation of the aorta
Hypoplastic left heart syndrome
Pulmonary atresia
Transposition of the great arteries
Tetralogy of Fallot
Total anomalous pulmonary venous return
Tricuspid atresia
Truncus arteriosus
Central Nervous System (Brain and Spine) Spina bifida without anencephaly
Microcephaly with a coexisting brain anomaly*
Eye Anophthalmia / microphthalmia
Anterior Segment eye defects*
Posterior Segment eye defects*
Ear Anotia / microtia
Orofacial (Face and Mouth) Cleft lip with or without cleft palate
Cleft palate alone
Gastrointestinal (Gut) Esophageal atresia
Musculoskeletal (Muscles and Bones) Arthrogryposis*
Diaphragmatic hernia
Transverse limb deficiency

* Included in study as of 2020