Browne Marilyn L, Rasmussen Sonja A, Hoyt Adrienne T, Waller D Kim, Druschel Charlotte M, Caton Alissa R, Canfield Mark A, Lin Angela E, Carmichael Suzan L, Romitti Paul A
Congenital Malformations Registry, New York State Department of Health, Troy, New York, USA.
Birth Defects Res A Clin Mol Teratol. 2009 Jul;85(7):621-8. doi: 10.1002/bdra.20573.
Although thyroid disorders are present in approximately 3% of pregnant women, little is known about the association between maternal thyroid disease and birth defects.
We assessed the association between maternal thyroid disease, thyroid medication use, and 38 types of birth defects among 14,067 cases and 5875 controls in the National Birth Defects Prevention Study, a multisite, population-based, case-control study. Infants in this study were born between October 1997 and December 2004. Information on exposures including maternal diseases and use of medications was collected by telephone interview.
We found statistically significant associations between maternal thyroid disease and left ventricular outflow tract obstruction heart defects (1.5; 95% CI, 1.0-2.3), hydrocephaly (2.9; 95% CI, 1.6-5.2), hypospadias (1.6; 95% CI, 1.0-2.5), and isolated anorectal atresia (2.4; 95% CI, 1.2-4.6). Estimates for the association between periconceptional use of thyroxine and specific types of birth defects were similar to estimates for any thyroid disease. Given that antithyroid medication use was rare, we could not adequately assess risks for their use for most case groups.
Our results are consistent with the positive associations between maternal thyroid disease or thyroid medication use and both hydrocephaly and hypospadias observed in some previous studies. New associations with left ventricular outflow tract obstruction heart defects and anorectal atresia may be chance findings.
尽管约3%的孕妇存在甲状腺疾病，但关于母体甲状腺疾病与出生缺陷之间的关联却知之甚少。
在全国出生缺陷预防研究中，我们评估了14,067例病例和5,875例对照中母体甲状腺疾病、甲状腺药物使用与38种出生缺陷之间的关联。该研究是一项多中心、基于人群的病例对照研究。本研究中的婴儿于1997年10月至2004年12月期间出生。通过电话访谈收集包括母体疾病和药物使用在内的暴露信息。
我们发现母体甲状腺疾病与左心室流出道梗阻性心脏缺陷（1.5；95%置信区间，1.0 - 2.3）、脑积水（2.9；95%置信区间，1.6 - 5.2）、尿道下裂（1.6；95%置信区间，1.0 - 2.5）以及孤立性肛门直肠闭锁（2.4；95%置信区间，1.2 - 4.6）之间存在统计学显著关联。孕前使用甲状腺素与特定类型出生缺陷之间的关联估计与任何甲状腺疾病的估计相似。鉴于抗甲状腺药物的使用很少见，我们无法充分评估大多数病例组使用这些药物的风险。
我们的结果与先前一些研究中观察到的母体甲状腺疾病或甲状腺药物使用与脑积水和尿道下裂之间的正相关一致。与左心室流出道梗阻性心脏缺陷和肛门直肠闭锁的新关联可能是偶然发现。
