The authors have indicated that they have no financial relationships to this article to disclose.
Article first published online: 29 AUG 2007
Copyright © 2007 Wiley-Liss, Inc.
Birth Defects Research Part A: Clinical and Molecular Teratology
Volume 79, Issue 10, pages 714–727, October 2007
How to Cite
Botto, L. D., Lin, A. E., Riehle-Colarusso, T., Malik, S. and Correa, A. (2007), Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Research Part A: Clinical and Molecular Teratology, 79: 714–727. doi: 10.1002/bdra.20403
The findings and conclusions in this report are those of the author(s) and do not necessarily represent the views of the Centers for Disease Control and Prevention.
- Issue published online: 8 OCT 2007
- Article first published online: 29 AUG 2007
- Manuscript Accepted: 1 AUG 2007
- Manuscript Revised: 17 JUL 2007
- Manuscript Received: 12 APR 2007
- The NBDPS is supported by cooperative agreement from the Centers for Disease Control and Prevention. Grant Number: U50/CCU 1132247-03
- congenital heart defects;
BACKGROUND: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). METHODS: The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. RESULTS: Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. CONCLUSIONS: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well-characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects. Birth Defects Research (Part A), 2007. © 2007 Wiley-Liss, Inc.