临床医学工程2025，Vol.32Issue(2)：121-124,4.DOI:10.3969/j.issn.1674-4659.2025.02.0121
孕早期颈项透明层检查联合孕中期无创DNA检测对高龄孕妇唐氏综合征的筛查价值
The Screening Value of Early-Pregnancy Nuchal Translucency Examination Combined with Middle-Pregnancy Non-Invasive DNA Testing for Down Syndrome in Elderly Pregnant Women
摘要
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 that 63 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 35 cases 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 were 100.00％,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 was 0.00％,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.关键词
唐氏综合征/高龄孕妇/颈项透明层检查/无创DNA检测Key words
Down syndrome/Elderly pregnant woman/Nuchal translucency examination/Non-invasive DNA testing分类
医药卫生引用本文复制引用
侯璇,张华,马子珺,杨黎明,袁路,张富青..孕早期颈项透明层检查联合孕中期无创DNA检测对高龄孕妇唐氏综合征的筛查价值[J].临床医学工程,2025,32(2):121-124,4.基金项目
河南省医学科技攻关计划联合共建项目(项目编号:LHGJ20230759) （项目编号:LHGJ20230759）
