The Wisconsin Pediatric Cardiac Registry: A mechanism for exploring etiologies of congenital heart defects

On January 1, 2000, the Wisconsin Pediatric Cardiac Registry began registering families of infants born with a congenital heart defect (CHD) in Wisconsin. Pediatric cardiologists across the state developed the Registry as a database and as a research study exploring potential etiologies of CHDs. Participating pediatric cardiologists identify the infants and refer families to the Registry. Families are asked to participate by completing a comprehensive questionnaire that inquires into exposures and illnesses experienced during the 6 months prior to the pregnancy and during the pregnancy itself. A subset of families, based on the infant's diagnosis (hypoplastic left heart syndrome, conotruncal abnormalities, and Ebstein's anomaly) participates in DNA testing. This article describes the development of the Registry, family referral and participation to date, genetic advances in the etiology of CHDs, and research initiatives utilizing the data provided by families for the WPCR.