Borelli Melissa, Baer Rebecca J, Chambers Christina D, Smith Tyler C, Jelliffe-Pawlowski Laura L
Department of Community Health, School of Health and Human Services, National University, San Diego, California.
Department of Pediatrics, University of California San Diego, La Jolla, California.
Am J Med Genet A. 2017 Feb;173(2):368-374. doi: 10.1002/ajmg.a.38013. Epub 2016 Oct 14.
We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements. The sample included 118,194 mother-infant pairs; 284 infants had a CCHD. Women with preexisting diabetes were three-times as likely to have an infant with a CCHD. After adjusting for preexisting diabetes, women with first-trimester human chorionic gonatotropin (hCG) measurement <10th centile were 1.6-times as likely to have an infant with a CCHD (P = 0.011). Women with a NT measurement ≥95th centile were at two- to threefold higher risk of having an infant with a CCHD (P's = 0.004-0.007). Pregnancies with two risk factors for an infant with a CCHD were 5.6-times more likely to have an infant with a CCHD than women with no identified risk factors (P < 0.001). Despite the increased risk, performance testing demonstrated low sensitivity and specificity for screening use of these risk factors. Of the women with an infant with a CCHD, only 21.8% had an identified risk factor. © 2016 Wiley Periodicals, Inc.
我们研究了孕产妇特征、孕早期和孕中期常规收集的生物标志物与婴儿患严重先天性心脏病（CCHD）风险之间的关联。纳入对象为参加加利福尼亚产前筛查项目且进行了颈部透明带（NT）测量以及孕早期和孕中期血清筛查的女性。所有妊娠均以无非整倍体或神经管缺陷婴儿的活产告终。采用泊松回归分析来估计根据孕产妇特征、孕早期和孕中期血清生物标志物或NT测量得出的CCHD相对风险及95%置信区间。样本包括118,194对母婴；284名婴儿患有CCHD。患有孕前糖尿病的女性生出患CCHD婴儿的可能性是常人的三倍。在对孕前糖尿病进行校正后，孕早期人绒毛膜促性腺激素（hCG）测量值处于第10百分位数以下的女性生出患CCHD婴儿的可能性是常人的1.6倍（P = 0.011）。NT测量值处于第95百分位数及以上的女性生出患CCHD婴儿的风险高出两至三倍（P值 = 0.004 - 0.007）。具有两种CCHD婴儿风险因素的妊娠生出患CCHD婴儿的可能性比未发现风险因素的女性高5.6倍（P < 0.001）。尽管风险增加，但性能测试表明这些风险因素用于筛查时敏感性和特异性较低。在生出患CCHD婴儿的女性中，只有21.8%有已确定的风险因素。© 2016威利期刊公司
