Ethnicity, sex, and the incidence of congenital heart defects: A report from the National Down Syndrome Project

Sallie B. Freeman, Lora H. Bean, Emily G. Allen, Stuart W. Tinker, Adam Locke, Charlotte Druschel, Charlotte A. Hobbs, Paul A. Romitti, Marjorie H. Royle, Claudine P. Torfs, Kenneth J. Dooley, Stephanie L. Sherman

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    204 Scopus citations


    PURPOSE: The population-based National Down Syndrome Project combined epidemiological and molecular methods to study congenital heart defects in Down syndrome. METHODS: Between 2000 and 2004, six sites collected DNA, clinical, and epidemiological information on parents and infants. We used logistic regression to examine factors associated with the most common Down syndrome-associated heart defects. RESULTS: Of 1469 eligible infants, major cardiac defects were present in 44%; atrioventricular septal defect (39%), secundum atrial septal defect (42%), ventricular septal defect (43%), and tetralogy of Fallot (6%). Atrioventricular septal defects showed the most significant sex and ethnic differences with twice as many affected females (odds ratio, 1.93; 95% confidence interval, 1.40-2.67) and, compared with whites, twice as many blacks (odds ratio, 2.06; 95% confidence interval, 1.32-3.21) and half as many Hispanics (odds ratio, 0.48; 95% confidence interval, 0.30-0.77). No associations were found with origin of the nondisjunction error or with the presence of gastrointestinal defects. CONCLUSIONS: Sex and ethnic differences exist for atrioventricular septal defects in Down syndrome. Identification of genetic and environmental risk factors associated with these differences is essential to our understanding of the etiology of congenital heart defects.

    Original languageEnglish
    Pages (from-to)173-180
    Number of pages8
    JournalGenetics in Medicine
    Issue number3
    StatePublished - Mar 2008


    • Ancestral informative markers
    • Atrioventricular septal defect
    • Congenital heart defects
    • Down syndrome
    • Ethnicity
    • Gender
    • Maternal age
    • Race
    • Sex
    • Trisomy 21


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