Baer Rebecca J, Norton Mary E, Shaw Gary M, Flessel Monica C, Goldman Sara, Currier Robert J, Jelliffe-Pawlowski Laura L
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA.
Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, School of Medicine, San Francisco, CA.
Am J Obstet Gynecol. 2014 Dec;211(6):675.e1-19. doi: 10.1016/j.ajog.2014.06.025. Epub 2014 Jun 17.
We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants.
Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3.5 mm compared to those with measurements <90th percentile for CRL).
When considered by CRL adjusted percentile and by measurement ≥3.5 mm, infants with a NT ≥95th percentile were at risk of having ≥1 major structural birth defects (any defect, RR, 1.6; 95% CI, 1.3-1.9; multiple defects, RR, 2.1; 95% CI, 1.3-3.4). Infants with a NT measurement ≥95th percentile were at particularly high risk for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies (RR, 1.6-2.7; 95% CI, 1.1-5.4).
Our findings demonstrate that risks of major pulmonary, gastrointestinal, genitourinary, and musculoskeletal structural birth defects exist for NT measurements ≥95th percentile. The ≥3-fold risks were observed for congenital hydrocephalus; agenesis, hypoplasia, and dysplasia of the lung; atresia and stenosis of the small intestine; osteodystrophies; and diaphragm anomalies.
我们试图研究孕早期胎儿颈部半透明带（NT）测量值增加与整倍体婴儿主要非心脏结构出生缺陷之间的关联。
纳入了2009年至2010年在加利福尼亚州出生的75899名单胎婴儿，这些婴儿无非整倍体或严重先天性心脏缺陷，且在妊娠11至14周时测量了NT。采用逻辑二项回归来估计NT测量值增加的婴儿（根据顶臀长[CRL]的百分位数以及与CRL测量值低于第90百分位数的婴儿相比增加≥3.5 mm）发生出生缺陷的相对风险（RRs）和95%置信区间（CIs）。
当按CRL调整后的百分位数以及测量值≥3.5 mm来考虑时，NT≥第95百分位数的婴儿有≥1种主要结构出生缺陷的风险（任何缺陷，RR，1.6；95% CI，1.3 - 1.9；多种缺陷，RR，2.1；95% CI，1.3 - 3.4）。NT测量值≥第95百分位数的婴儿患肺部、胃肠道、泌尿生殖系统和肌肉骨骼异常的风险特别高（RR，1.6 - 2.7；95% CI，1.1 - 5.4）。
我们的研究结果表明，NT测量值≥第95百分位数的婴儿存在主要的肺部、胃肠道、泌尿生殖系统和肌肉骨骼结构出生缺陷风险。先天性脑积水、肺发育不全、小肠闭锁和狭窄、骨营养不良以及膈肌异常的风险增加了≥3倍。
