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Author Notes:

Correspondence: Lora J.H. Bean, PhD, Department of Human Genetics, Emory University, 615 Michael St. Suite 301, Atlanta, GA, 30322. Phone: (404) 727-0485. Fax: (404) 727-3949. Email: ljbean@emory.edu

Acknowledgments: The authors would like to thank Rupa Masse, Maneesha Yadav-Shaw, and Weiya He for excellent technical assistance, Helen Smith and Elizabeth Sablón for family recruitment and Michele Marcus for helpful discussion.

In addition, we are grateful to all the personnel at each NDSP site. We thank the many families nationwide whose participation has made this study possible.

Disclosures: The authors have no competing interests to declare.


Research Funding:

This work was supported by NIH R01 HD38979, NIH P01HD24605, F32 HD046337, NIH RO1 HL083300, and by the technical assistance of the General Clinical Research Center at Emory University (NIH/NCRR M01 RR00039).


  • Atrial septal defect
  • Atrioventricular septal defect
  • Congenital heart defect
  • Down syndrome
  • Folic acid

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project

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Journal Title:

Birth Defects Research Part A: Clinical and Molecular Teratology


Volume 91, Number 10


, Pages 885-893

Type of Work:

Article | Post-print: After Peer Review


BACKGROUND Maternal folic acid supplementation has been associated with a reduced risk for neural tube defects, and may be associated with a reduced risk for congenital heart defects, and other birth defects. Individuals with Down syndrome are at high risk for congenital heart defects and have been shown to have abnormal folate metabolism. METHODS As part of the population-based case-control National Down Syndrome Project, 1011 mothers of infants with Down syndrome reported their use of folic acid-containing supplements. These data were used to determine whether lack of periconceptional maternal folic acid supplementation is associated with congenital heart defects in Down syndrome. We used logistic regression to test the relationship between maternal folic acid supplementation and the frequency of specific heart defects correcting for maternal race/ethnicity, proband sex, maternal use of alcohol and cigarettes, and maternal age at conception. RESULTS Lack of maternal folic acid supplementation was more frequent among infants with Down syndrome and atrioventricular septal defects (OR=1.69; 95% CI, 1.08–2.63; P=0.011) or atrial septal defects (OR=1.69; 95% CI, 1.11–2.58; P=0.007) than among infants with Down syndrome and no heart defect. Preliminary evidence suggests that the patterns of association differ by race/ethnicity and sex of the proband. There was no statistically significant association with ventricular septal defects (OR=1.26; 95% CI, 0.85–1.87; P=0.124). CONCLUSIONS Our results suggest that lack of maternal folic acid supplementation is associated with septal defects in infants with Down syndrome.

Copyright information:

© 2011 Wiley-Liss, Inc.

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