Purpose: To assess usefulness of family history information obtained in pediatric practice, we evaluated maternally reported family history data.
Methods: 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.
Results: 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.
Conclusion: Reporting a family history of birth defects might be influenced by maternal demographic factors, which should be considered in developing pediatric family history tools.