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Integration of DNA sample collection into a multi-site birth defects case-control study
Sonja A Rasmussen1, Edward J Lammer, Gary M Shaw
1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.
Teratology
|September 28, 2002
Summary
The National Birth Defects Prevention Study (NBDPS) now collects DNA samples from infants and parents to identify genetic risk factors for birth defects. This genetic data aids in understanding mutations and susceptibility to teratogens.
Area of Science:
- Epidemiology
- Genetics
- Public Health
Background:
- Quantitative analysis and molecular genotyping offer new avenues for epidemiologic studies.
- The National Birth Defects Prevention Study (NBDPS) is an ongoing case-control study focused on identifying birth defect risk factors.
Purpose of the Study:
- To describe the integration of DNA sample collection into the NBDPS.
- To enhance the study's capacity for genetic analysis in identifying birth defect causes.
Main Methods:
- Infants with over 30 major birth defects (cases) and healthy infants (controls) were identified via surveillance systems.
- Buccal cytobrush DNA samples were collected from case infants, control infants, and their parents.
- Epidemiologic data was gathered through interviews with mothers of cases and controls.
Main Results:
- Methods for DNA sample collection and processing were established.
- A centralized DNA banking resource was created with quality control measures.
- Procedures for database management, access, informed consent, and confidentiality were implemented.
Conclusions:
- DNA samples are crucial for epidemiologic studies of birth defects, enabling genetic analyses.
- Collected DNA can be used to detect mutations, study gene-environment interactions, and identify susceptibility variants.
- The NBDPS experience provides valuable insights for other studies incorporating DNA sampling.