Evidence map›Paper›PMID 21987466›Full record

ArticleBirth defects research. Part A, Clinical and molecular teratology2011

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

Lora J H Bean, Emily G Allen, Stuart W Tinker, Natasha D Hollis, Adam E Locke, Charlotte Druschel, Charlotte A Hobbs, Leslie O'Leary, Paul A Romitti, Marjorie H Royle and 4 more

Open access · greenAbstract read
In one paragraph

Article in Birth defects research. Part A, Clinical and molecular teratology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 4 pooled it
1.7field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

32 citing papers in PubMed, 4 syntheses or guidelines pooled it, 53 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Folic acid supplementation on congenital heart disease and its dual character.Current research in pharmacology and drug discovery · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Association of periconceptional folate supplements andZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022
    Article
  12. Willingness to Pay for Down Syndrome Screening: A systematics Review.Medical journal of the Islamic Republic of Iran · 2022
    Review
  13. Article
  14. Article
  15. Review
  16. Review
  17. Article
  18. Review
  19. Article
  20. The Complex Genetic Basis of Congenital Heart Defects.Circulation journal : official journal of the Japanese Circulation Society · 2017
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 8 institutions in 1 country.

Lora J H BeanDepartment of Human Genetics, Emory University, Atlanta, Georgia, USA. ljbean@emory.edu
Emily G Allen
Stuart W Tinker
Natasha D Hollis
Adam E Locke
Charlotte Druschel
Charlotte A Hobbs
Leslie O'Leary
Paul A Romitti
Marjorie H Royle
Claudine P Torfs
Kenneth J Dooley
Sallie B Freeman
Stephanie L Sherman
Emory University · USCenters for Disease Control and Prevention · USChildren's Healthcare of Atlanta · USNew Jersey Department of Health · USNew York State Department of Health · USPublic Health Institute · USUniversity of Arkansas for Medical Sciences · USUniversity of Iowa · US

Funding

CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR025008 · NCRR · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2007 to 2011
$29.0M
Atlanta Clinical and Translational Science Institute (ACTSI) RenewalUL1TR000454 · NCATS · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2012 to 2016
$25.8M
X LINKED NYSTAGMUS SYNDROME WITH FEATURES OF ALBINISMM01RR000039 · NCRR · EMORY UNIVERSITY · PI VACCARINO, VIOLA · 1985 to 2007
$21.3M
TRISOMY 21: RISK FACTORS FOR CHROMOSOME NONDISJUNCTIONR01HD038979 · NICHD · EMORY UNIVERSITY · PI FEINGOLD, ELEANOR, SHERMAN, STEPHANIE L. · 2000 to 2013
$11.2M
UTILIZATION OF TRANSGENICS IN THE STUDY OF DOWN SYNDROMEP01HD024605 · NICHD · JOHNS HOPKINS UNIVERSITY · PI REEVES, ROGER H · 1989 to 2004
$8.2M
PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008490 · NIGMS · EMORY UNIVERSITY · PI BOSS, JEREMY M. · 1993 to 2022
$8.0M
Genetic basis for congenital heart defectsR01HL083300 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI REEVES, ROGER H · 2007 to 2011
$5.6M
Identifying Downs Syndrome Heart Defect Candidate GenesF32HD046337 · NICHD · EMORY UNIVERSITY · PI BEAN, LORA J · 2004 to 2006
$148k
NCATS NIH HHS UL1 TR000454NCRR NIH HHS M01 RR000039NCRR NIH HHS UL1 RR025008NHLBI NIH HHS R01 HL083300NICHD NIH HHS F32 HD046337NICHD NIH HHS P01 HD024605NICHD NIH HHS R01 HD038979NIGMS NIH HHS T32 GM008490
6 · The paper itself

Abstract

backgroundMaternal 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.

methodsAs part of the population-based case-control National Down Syndrome Project, 1011 mothers of infants with Down syndrome reported their use of supplements containing folic acid. These data were used to determine whether a 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 or ethnicity, proband sex, maternal use of alcohol and cigarettes, and maternal age at conception.

resultsLack of maternal folic acid supplementation was more frequent among infants with Down syndrome and atrioventricular septal defects (odds ratio [OR], 1.69; 95% confidence interval [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 or 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).

conclusionsOur results suggest that lack of maternal folic acid supplementation is associated with septal defects in infants with Down syndrome. Birth Defects Research (Part A), 2011. © 2011 Wiley-Liss, Inc.

Indexed as

Dietary SupplementsFolic AcidDown SyndromeFemaleHeart Septal Defects, AtrialHeart Septal Defects, VentricularHumansInfantMalePregnancyUnited StatesFolic Acid

Identifiers

PMID21987466
PMCPMC3233972
OpenAlexW2103351111

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.