Journal article
Guidelines for case classification for the National Birth Defects Prevention Study
Birth defects research. A Clinical and molecular teratology, Vol.67(3), pp.193-201
2003
DOI: 10.1002/bdra.10012
PMID: 12797461
Abstract
Background
Previous studies have suggested that etiologic heterogeneity may complicate epidemiologic analyses designed to identify risk factors for birth defects. Case classification uses knowledge of embryologic and pathogenetic mechanisms to make case groups more homogeneous and is important to the success of birth defects studies.
METHODS
The goal of the National Birth Defects Prevention Study (NBDPS), an ongoing multi-site case–control study, is to identify environmental and genetic risk factors for birth defects. Information on environmental risk factors is collected through an hour-long maternal interview, and DNA is collected from the infant and both parents for evaluation of genetic risk factors. Clinical data on infants are reviewed by clinical geneticists to ensure they meet the detailed case definitions developed specifically for the study. To standardize the methods of case classification for the study, an algorithm has been developed to guide NBDPS clinical geneticists in this process.
RESULTS
Methods for case classification into isolated, multiple, and syndrome categories are described. Defects considered minor for the purposes of case classification are defined. Differences in the approach to case classification for studies of specific defects and of specific exposures are noted.
CONCLUSIONS
The case classification schema developed for the NBDPS may be of value to other clinicians working on epidemiologic studies of birth defects etiology. Consideration of these guidelines will lead to more comparable case groups, an important element of careful studies aimed at identifying risk factors for birth defects.
Details
- Title: Subtitle
- Guidelines for case classification for the National Birth Defects Prevention Study
- Creators
- Sonja A Rasmussen - National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, United StatesRichard S Olney - National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, United StatesLewis B Holmes - Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, United StatesAngela E Lin - Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, United StatesKim M KEPPLER-NOREUIL - Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, United StatesCynthia A Moore - National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, United StatesNational Birth Defects Prevention Study
- Contributors
- Paul A Romitti (Contributor) - University of Iowa, Epidemiology
- Resource Type
- Journal article
- Publication Details
- Birth defects research. A Clinical and molecular teratology, Vol.67(3), pp.193-201
- DOI
- 10.1002/bdra.10012
- PMID
- 12797461
- NLM abbreviation
- Birth Defects Res A Clin Mol Teratol
- ISSN
- 1542-0752
- eISSN
- 1542-0760
- Publisher
- Wiley
- Language
- English
- Date published
- 2003
- Academic Unit
- Epidemiology; Biostatistics
- Record Identifier
- 9984214665902771
Metrics
9 Record Views