Makrydimas George, Sotiriadis Alexandros, Ioannidis John P A
Department of Obstetrics and Gynaecology, University of Ioannina School of Medicine, Ioannina 45110, Greece.
Am J Obstet Gynecol. 2003 Nov;189(5):1330-5. doi: 10.1067/s0002-9378(03)00645-8.
The purpose of this study was to evaluate the screening performance of increased first-trimester nuchal translucency for the detection of major congenital heart defects.
A meta-analysis based on MEDLINE and EMBASE searches (up to June 2002) that assessed the diagnostic performance of increased nuchal translucency for congenital heart defect detection. Weighted sensitivity and specificity estimates (random effects) and summary receiver-operating characteristic curves were obtained.
Eight independent studies with 58,492 pregnant women were analyzed. There was significant heterogeneity among the studies. Nuchal translucency above the 99th percentile had a sensitivity of 31% and specificity of 98.7% (random effects calculations), with a positive likelihood ratio of 24. Summary receiver-operating characteristic estimates were consistent with these values. The ability of nuchal translucency measurements above this threshold to detect cardiac malformations varied nonsignificantly (P=.64) for different congenital heart defects types (sensitivity range, 25%-55%).
Nuchal translucency screening is a modestly efficient strategy for congenital heart defect detection; the use of the 99th percentile threshold may capture approximately 30% of congenital heart defects.
本研究旨在评估孕早期颈项透明层增厚对检测主要先天性心脏缺陷的筛查效能。
基于MEDLINE和EMBASE检索（截至2002年6月）进行的一项荟萃分析，评估颈项透明层增厚对先天性心脏缺陷检测的诊断效能。获得加权敏感度和特异度估计值（随机效应）以及汇总的受试者工作特征曲线。
分析了8项包含58492名孕妇的独立研究。各研究之间存在显著异质性。第99百分位数以上的颈项透明层增厚，其敏感度为31%，特异度为98.7%（随机效应计算），阳性似然比为24。汇总的受试者工作特征估计值与这些数值一致。对于不同类型的先天性心脏缺陷，此阈值以上的颈项透明层测量值检测心脏畸形的能力变化无统计学意义（P = 0.64）（敏感度范围为25% - 55%）。
颈项透明层筛查是一种检测先天性心脏缺陷的适度有效策略；采用第99百分位数阈值可能检测出约30%的先天性心脏缺陷。
