无创DNA产前筛查技术在胎儿非整倍体产前筛查中的临床应用价值

Clinical application value of non-invasive prenatal testing in prenatal screening for fetal aneuploidy

目的探讨无创DNA产前筛查技术(NIPT)在胎儿非整倍体产前筛查中的临床应用价值及其假阳性原因。方法选取2017年10月至2019年6月于本院妇产科门诊就诊且自愿进行血清学筛查和NIPT检测的5143例孕妇作为研究对象,详细询问并记录孕妇年龄、孕龄、末次月经时间、孕产次和既往分娩史。结果NIPT结果显示胎儿非整倍体高风险胎儿23例,其中21-三体高风险16例,18-三体高风险4例,13-三体高风险3例。羊水细胞核型诊断结果显示21-三体15例,18-三体4例,13-三体3例。低风险结果随访中全部与NIPT检测一致。故无创胎儿染色体非整倍体基因检测方法总的灵敏度为100.00%,特异度为99.98%,假阳性率为0.02%,假阴性率为0.00%;染色体异常基因测序显示,NIPT与羊水细胞核型分析验证不一致为局限性胎盘嵌合(CPM)。结论NIPT是一种高灵敏度和高特异度的非侵入性的胎儿染色体非整倍体产前筛查手段,局限性胎盘嵌合体是影响NIPT假阳性的因素之一。

Objective To analyze the clinical value of non-invasive prenatal testing in prenatal diagnosis and the cause of the false positive.Methods A total of 5143 pregnant women who voluntarily underwent serological screening and NIPT test in the Department of Obstetrics and Gynecology of our Hospital from October 2017 to June 2019 were selected as research subjects,age,gestational age,time of last menstruation,gestational number and previous labor history of pregnant women were asked and recorded in detail.Results Atotal of 23 pregnant women were verified positive for NIPT.including 16 cases of tiresome 21-syndrome fetal abnormalities,4 cases of tiresome 18-syndrome fetal abnormalities,3 cases of tiresome 13-syndrome fetal abnormalities.The results of karyotype analysis of amniotic fluid showed that there were 15 cases of 21-trisomy,4 cases of 18-trisomy,and 3 cases of 13-trisomy.The sensitivity of the detection method of non-invasive fetal aneuploidy gene was 100%and the specificity was 99.98%.The false positive rate was 0.02%and the false negative rate was 0.00%.The abnormalchromosomal gene sequencing revealed that NIPT and cell karyotype analysis was inconsistent with confined placental mosaicism.Conclusion NIPT is a highly sensitive and highly specific non-invasive prenatal screening method for fetal chromosomal aneuploidy,the CPM is one of the factors that influence the false positive of NIPT.