18500例高龄孕妇外周血无创DNA产前检测结果的临床研究

A clinical study of non-invasive DNA prenatal detection of peripheral blood in 18500 elderly pregnant women

目的探讨高龄孕妇应用外周血无创DNA产前检测技术(NIPT)对胎儿染色体异常筛查和产前诊断的临床应用价值。方法选取2020年1月至2023年1月于西北妇女儿童医院进行产前外周血NIPT检测的高龄孕妇18500例作为研究对象,分析NIPT诊断胎儿各类染色体异常的准确性,探讨高龄孕妇胎儿染色体异常的高危因素。结果NIPT筛查出染色体高风险异常胎儿212例(1.15%),其中21三体综合征(T21)111例(52.36%)、18三体综合征(T18)21例(9.91%)、13三体综合征(T13)10例(4.72%)、性染色体异常66例(31.13%)、其他染色体异常4例(1.89%)。以介入性羊水穿刺活检为金标准,计算得出NIPT诊断T21、T18、T13、性染色体异常、其他染色体异常的阳性预测值分别为80.95%、33.33%、14.29%、33.33%、33.33%,准确度分别为86.84%、93.16%、96.31%、73.16%、98.42%。Logistic多因素回归分析显示,年龄>40岁、不良孕产史、染色体异常家族史均是高龄孕妇胎儿染色体异常的独立高危因素(均P<0.05)。结论NIPT对高龄孕妇胎儿各类染色体异常的诊断准确性均较高,可作为有效的优选筛查手段。高龄孕妇胎儿染色体异常的危险因素众多,可根据相关危险因素积极进行产前NIPT筛查,以精准指导临床针对性的应用有创介入穿刺检查。

Objective Exploring the clinical application value of non-invasive DNA prenatal testing(NIPT)in advanced maternal age pregnant women for fetal chromosomal abnormality screening and prenatal diagnosis.Methods A total of 18500 cases of advanced maternal age pregnant women who underwent prenatal non-invasive DNA testing(NIPT)at the Northwest Women's and Children's Hospital from January 2020 to January 2023 were selected as the study subjects.Analyzed the accuracy of NIPT in diagnosing various chromosomal abnormalities in fetuses,and explored the high-risk factors for fetal chromosomal abnormalities in elderly pregnant women.Results In the NIPT screening,212 cases of fetuses with high-risk chromosomal abnormalities were detected(1.15%).Among these cases,there were 111 cases of trisomy 21(T21)(52.36%),21cases of trisomy 18(T18)(9.91%),10 cases of trisomy 13(T13)(4.72%),66 cases of sex chromosome abnormalities(31.13%),and 4 cases of other chromosomal abnormalities(1.89%).Using invasive amniocentesis as the gold standard,the positive predictive values for NIPT in diagnosing T21,T18,T13,sex chromosome abnormalities,and other chromosomal abnormalities were 80.95%,33.33%,14.29%,33.33%,and 33.33%,respectively.The corresponding accuracies were 86.84%,93.16%,96.31%,73.16%,and 98.42%.Logistic multiple factor regression analysis revealed that maternal age>40 years,adverse obstetric history,and family history of chromosomal abnormalities were all independent high-risk factors for fetal chromosomal abnormalities in advanced maternal age(P<0.05).Conclusion NIPT demonstrates high diagnostic accuracy for various chromosomal abnormalities in fetuses of advanced maternal age and can be regarded as an effective preferred screening method.There are numerous risk factors associated with chromosomal abnormalities in fetuses of advanced maternal age.Therefore,based on these relevant risk factors,proactive prenatal NIPT screening can be conducted to accurately guide clinical applications,including targeted invasive interventions and puncture tests.