【摘要】 目的 研究孕早期颈项透明层（NT）检查联合孕中期无创DNA检测对高龄孕妇唐氏综合征（DS）的筛查价值。方法 选取我院2022年1月至2024年10月进行产前DS筛查的高龄孕妇100例，均予以孕早期NT检查和孕中期无创DNA检测。以羊水穿刺结果作为“金标准”，分析NT检查、无创DNA检测单独及联合检查对高龄孕妇DS的诊断结果和诊断效能。结果 100例产前DS筛查高龄孕妇中，羊水穿刺结果显示DS 63例，非DS 37例；NT检查检出DS 55例，非DS 34例；无创DNA检测检出DS 61例，非DS 35例；NT检查联合无创DNA检测检出DS 63例，非DS 34例。NT检查联合无创DNA检测诊断DS的特异度91.89%、误诊率8.11%，与NT检查的91.89%、 8.11%比较无统计学差异（P>0.05），但灵敏度100.00%、准确度97.00%、阴性预测值100.00%均高于NT检查的87.30%、 89.00%、 80.95%，漏诊率0.00%低于NT检查的12.70%(P <0.05); NT检查联合无创DNA检测诊断DS的灵敏度、特异度、准确度、漏诊率、误诊率与无创DNA检测比较均无统计学差异（P>0.05）。结论 孕早期NT检查联合孕中期无创DNA检测在筛查高龄孕妇DS中具有较高的灵敏性和准确性，能够减少漏诊情况的发生，值得临床推广应用。更多还原

【Abstract】 Objective To study the screening value of early-pregnancy nuchal translucency(NT) examination combined with middle-pregnancy non-invasive DNA testing for Down syndrome(DS) in elderly pregnant women. Methods 100 elderly pregnant women undergoing prenatal DS screening in our hospital from January 2022 to October 2024 were selected, and given early-pregnancy NT examination and middle-pregnancy non-invasive DNA testing. Taking the amniotic fluid puncture results as the gold standard, the diagnostic results and diagnostic efficacy of single and combined examination of NT and non-invasive DNA testing for DS in elderly pregnant women were analyzed. Results Among the 100 elderly pregnant women for prenatal DS screening, the amniotic fluid puncture results showed that63 cases of DS and 37 cases of non-DS; 55 cases of DS and 34 cases of non-DS were detected by NT examination; 61 cases of DS and 35cases of non-DS were detected by non-invasive DNA testing; 63 cases of DS and 34 cases of non-DS were detected by NT examination combined with non-invasive DNA testing. No statistical difference was found in the specificity and misdiagnosis rate between NT examination combined with noninvasive DNA testing and NT examination(91.89% vs. 91.89%, 8.11% vs. 8.11%)(P > 0.05). The sensitivity, accuracy, and negative predictive value of NT examination combined with non-invasive DNA testing were100.00%, 97.00%, and 100.00%, respectively, higher than 87.30%,89.00% and 80.95% of NT(P <0.05); the missed diagnosis rate of NT examination combined with non-invasive DNA testing was0.00%, lower than 12.70% of NT(P <0.05). No statistical difference was found in the sensitivity, specificity, accuracy, missed diagnosis rate, and misdiagnosis rate between NT examination combined with noninvasive DNA testing and non-invasive DNA testing(P >0.05). Conclusions Early-pregnancy NT examination combined with middle-pregnancy non-invasive DNA testing has higher sensitivity and accuracy in the screening of DS in elderly pregnant women, and can reduce the missed diagnosis, which is worthy of clinical promotion and application.更多还原