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Exploring the environmental and genetic etiologies of congenital heart defects: the Wisconsin Pediatric Cardiac Registry. J Registry Manag 2011;38(1):24-9



Pubmed ID


Scopus ID

2-s2.0-84856376667   7 Citations


INTRODUCTION: The Wisconsin Pediatric Cardiac Registry (WPCR) collects information on infants born in the state of Wisconsin with structural congenital heart disease (CHD).

METHODS: The WPCR actively ascertains CHD cases in the state of Wisconsin. Cases must be conceived and born in Wisconsin after January 1, 2000. Once ascertained, subjects are approached to participate in genetic sampling and completion of a questionnaire that assesses family history of CHD, maternal health, and environmental exposures before pregnancy and during the first trimester. In 2009, the WPCR underwent a transition to a new database and from a paper questionnaire to a Web-based questionnaire.

RESULTS: The WPCR has screened over 5,100 children and has ascertained 4,919 cases of CHD in the state of Wisconsin during the years 2000 to 2009. During this interval, 1,982 completed questionnaires and 1,062 DNA samples have been obtained from consented subjects. Another 1,774 DNA samples have been obtained from blood relatives of CHD subjects.

DISCUSSION: The WPCR operates as a specialized resource of genetic and environmental information on children with CHD for researchers focusing on the multifactorial causes of CHD.

Author List

Harris SE, Cronk C, Cassidy LD, Simpson P, Tomita-Mitchell A, Pelech AN


Laura Cassidy PhD Associate Dean, Professor in the Institute for Health and Equity department at Medical College of Wisconsin
Aoy Tomita Mitchell PhD Professor in the Surgery department at Medical College of Wisconsin
Pippa M. Simpson PhD Adjunct Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Clinical Coding
Gene-Environment Interaction
Heart Defects, Congenital
Surveys and Questionnaires