Integration of DNA sample collection into a multi-site birth defects case-control study.
BACKGROUND
Advances in quantitative analysis and molecular genotyping have provided unprecedented opportunities to add biological sampling and genetic information to epidemiologic studies. The purpose of this article is to describe the incorporation of DNA sample collection into the National Birth Defects Prevention Study (NBDPS), an ongoing case-control study in an eight-state consortium with a primary goal to identify risk factors for birth defects.


METHODS
Babies with birth defects are identified through birth defects surveillance systems in the eight participating centers. Cases are infants with one or more of over 30 major birth defects. Controls are infants without defects from the same geographic area. Epidemiologic information is collected through an hour-long interview with mothers of both cases and controls. We added the collection of buccal cytobrush DNA samples for case-infants, control-infants, and their parents to this study.


RESULTS
We describe here the methods by which the samples have been collected and processed, establishment of a centralized resource for DNA banking, and quality control, database management, access, informed consent, and confidentiality issues.


CONCLUSIONS
Biological sampling and genetic analyses are important components to epidemiologic studies of birth defects aimed at identifying risk factors. The DNA specimens collected in this study can be used for detection of mutations, study of polymorphic variants that confer differential susceptibility to teratogens, and examination of interactions among genetic risk factors. Information on the methods used and issues faced by the NBDPS may be of value to others considering the addition of DNA sampling to epidemiologic studies.
D016022:Case-Control Studies; D000013:Congenital Abnormalities / Q000453:epidemiology* / Q000235:genetics*; D004247:DNA / Q000032:analysis*; D003625:Data Collection; D019992:Databases as Topic; D005220:Fathers; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007407:Interviews as Topic; D008297:Male; D009035:Mothers; D015337:Multicenter Studies as Topic; D015997:Neonatal Screening / Q000379:methods*; D012042:Registries; D012307:Risk Factors
D004247:DNA