Document Detail

Integration of DNA sample collection into a multi-site birth defects case-control study.
MedLine Citation:
PMID:  12353214     Owner:  NLM     Status:  MEDLINE    
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.
Sonja A Rasmussen; Edward J Lammer; Gary M Shaw; Richard H Finnell; Robert E McGehee; Margaret Gallagher; Paul A Romitti; Jeffrey C Murray;
Related Documents :
12397634 - Apolipoprotein e and apolipoprotein b genotypes and risk for spina bifida.
7612534 - Limb reduction defects in south america.
1519654 - Anencephaly and limb deficiencies.
2978614 - Familial benign copper deficiency: an old case re-examined.
8112484 - Robustness of individual identity in the cries of human infants.
7402234 - The effect of a supportive companion on perinatal problems, length of labor, and mother...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Teratology     Volume:  66     ISSN:  0040-3709     ISO Abbreviation:  Teratology     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-09-27     Completed Date:  2003-03-12     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0153257     Medline TA:  Teratology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  177-84     Citation Subset:  IM    
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Case-Control Studies
Congenital Abnormalities / epidemiology*,  genetics*
DNA / analysis*
Data Collection
Databases as Topic
Infant, Newborn
Interviews as Topic
Multicenter Studies as Topic
Neonatal Screening / methods*
Risk Factors
Grant Support
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Prevention of fumonisin B1-induced neural tube defects by folic acid.
Next Document:  Role of maternal smoking and maternal reproductive history in the etiology of hypospadias in the off...