New York State Department of Health, Congenital Malformations Registry, Albany, New York.
Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, New York.
Am J Med Genet A. 2019 Sep;179(9):1799-1814. doi: 10.1002/ajmg.a.61290. Epub 2019 Jul 11.
Sacral agenesis is a rare birth defect characterized by partial or complete absence of the sacrum. We sought to (a) describe case characteristics, (b) estimate birth prevalence, and (c) identify risk factors for nonsyndromic sacral agenesis using data from the National Birth Defects Prevention Study (NBDPS). The NBDPS was a population-based, case-control study involving pregnancies with estimated dates of delivery from October 1997 through December 2011. We estimated birth prevalence using all NBDPS eligible cases. Using self-reported maternal exposure information, we conducted multivariable logistic regression analysis to identify potential risk factors overall and among women without diabetes. The birth prevalence of sacral agenesis was 2.6/100,000 live births. In the multivariable analysis, multifetal pregnancy, pre-existing Type 1 diabetes, and pre-existing Type 2 diabetes were positively and significantly associated with sacral agenesis, albeit estimates were imprecise. Preexisting Type 1 diabetes was the strongest risk factor (adjusted odds ratio = 96.6, 95% confidence interval = 43.5-214.7). Among women without diabetes, periconceptional smoking was positively and significantly associated with sacral agenesis. Our findings underscore the importance of smoking cessation programs among women planning pregnancy and the importance of better understanding the role of glycemic control before and during pregnancy when designing interventions for primary prevention of sacral agenesis.
骶骨发育不全是一种罕见的出生缺陷，其特征为部分或完全缺失骶骨。我们旨在：(a)描述病例特征；(b)使用全国出生缺陷预防研究（NBDPS）的数据估计发病率；(c)识别非综合征性骶骨发育不全的危险因素。NBDPS 是一项基于人群的病例对照研究，涉及 1997 年 10 月至 2011 年 12 月预计分娩日期的妊娠。我们使用所有 NBDPS 合格病例估计发病率。使用自我报告的母体暴露信息，我们进行了多变量逻辑回归分析，以确定总体和无糖尿病女性中的潜在危险因素。骶骨发育不全的发病率为 2.6/100,000 活产儿。在多变量分析中，多胎妊娠、既往 1 型糖尿病和既往 2 型糖尿病与骶骨发育不全呈正相关且显著相关，尽管估计值不精确。既往 1 型糖尿病是最强的危险因素（调整后的优势比=96.6，95%置信区间=43.5-214.7）。在无糖尿病的女性中，围孕期吸烟与骶骨发育不全呈正相关且显著相关。我们的研究结果强调了在计划怀孕的女性中开展戒烟计划的重要性，以及在设计预防骶骨发育不全的初级干预措施时，更好地理解妊娠前和妊娠期间血糖控制作用的重要性。
