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Genet Med. 2008 Jan;10(1):37-45. doi: 10.1097/GIM.0b013e31815f1def.

Maternal reports of family history from the National Birth Defects Prevention Study, 1997-2001.

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  • 1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.



To assess usefulness of family history information obtained in pediatric practice, we evaluated maternally reported family history data.


We analyzed family history responses from the National Birth Defects Prevention Study using interview data from mothers of children with birth defects (n = 9,331) and of unaffected liveborn children (n = 3,390) with 1997-2001 estimated delivery dates. We examined the effects of demographic factors, case-control status, and type of defect on birth defect family history reports. Interview information was compared with occurrence of prenatal testing.


Among case mothers, 1,577 (17%) reported a first- or second-degree relative with a birth defect, compared with 327 (10%) control mothers (odds ratio = 1.91, 95% confidence interval = 1.68-2.16). Reports of affected relatives were also more frequent among mothers who were non-Hispanic white, were 25 years or older, had more than 12 years of education, had an annual household income greater than $20,000, were born in the United States, and completed an English-language interview.


Reporting a family history of birth defects might be influenced by maternal demographic factors, which should be considered in developing pediatric family history tools.

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