Bean Lora J H, Allen Emily G, Tinker Stuart W, Hollis Natasha D, Locke Adam E, Druschel Charlotte, Hobbs Charlotte A, O'Leary Leslie, Romitti Paul A, Royle Marjorie H, Torfs Claudine P, Dooley Kenneth J, Freeman Sallie B, Sherman Stephanie L
Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
Birth Defects Res A Clin Mol Teratol. 2011 Oct;91(10):885-93. doi: 10.1002/bdra.22848. Epub 2011 Aug 24.
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.
As 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.
Lack 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).
Our 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.
孕期补充叶酸与神经管缺陷风险降低有关，也可能与先天性心脏病及其他出生缺陷风险降低有关。唐氏综合征患者患先天性心脏病的风险很高，且已证实其叶酸代谢异常。
作为基于人群的病例对照研究“全国唐氏综合征项目”的一部分，1011名唐氏综合征患儿的母亲报告了她们使用含叶酸补充剂的情况。这些数据用于确定孕期母亲缺乏叶酸补充是否与唐氏综合征患儿的先天性心脏病有关。我们使用逻辑回归来检验母亲叶酸补充与特定心脏缺陷发生频率之间的关系，并对母亲的种族或族裔、先证者性别、母亲饮酒和吸烟情况以及受孕时母亲年龄进行校正。
唐氏综合征合并房室间隔缺损（优势比[OR]，1.69；95%置信区间[CI]，1.08 - 2.63；p = 0.011）或房间隔缺损（OR，1.69；95% CI，1.11 - 2.58；p = 0.007）的患儿母亲中，未补充叶酸的情况比唐氏综合征且无心脏缺陷的患儿母亲更为常见。初步证据表明，关联模式因种族或族裔以及先证者性别而异。与室间隔缺损无统计学显著关联（OR，1.26；95% CI，0.85 - 1.87；p = 0.124）。
我们的结果表明，孕期母亲缺乏叶酸补充与唐氏综合征患儿的间隔缺损有关。《出生缺陷研究（A部分）》，2011年。© 2011威利 - 利斯公司。
