无创产前基因检测技术在产前筛查中的临床应用

Clinical application of noninvasive prenatal genetic testing(NIPT) in prenatal screening

目的探讨无创产前基因检测(noninvasive prenatal genetic testing,NIPT)在胎儿染色体非整倍体疾病中的临床应用。方法选择2015年11月至2017年6月赤峰生殖健康专科医院确诊的高危孕妇3 929例和一般孕妇1667例,共5 596例,对其外周血中游离胎儿DNA(cell-free fetal DNA,cff DNA)进行测序分析,评估染色体非整倍体疾病的风险率,对高风险孕妇进行羊水穿刺以确诊。结果 NIPT结果高风险孕妇共54例,占调查资料总数的0.96%,包括21-三体33例、18-三体8例、13-三体3例,X染色体疑似异常10例。54例高风险孕妇中32例进行了羊水穿刺,19例直接引产,2例胎停育,1例未做羊水穿刺已生正常。结果显示NIPT的检出率为100%,准确率为85.2%。结论NIPT对孕妇外周血中cff DNA的检测准确率达85.2%,其高准确性、无创性等优点适合大规模的产前筛查。

Objective To investigate the clinical application of noninvasive prenatal genetic testing （NIPT） in fetal chromosome aneuploidy diseases. Methods A total of 5 596 cases of pregnant women, in which 3 929 cases were high- risk and 1 667 cases were normal, were selected from November 2015 to June 2017. The risk rate of chromosome aneuploidy disease was evaluated by sequencing and analysis of the cell-free fetal DNA （effDNA） in their peripheral blood, and make amniocentesis in high-risk pregnant women to confirm the diagnosis. Results The NIPT results showed that there were 54 high-risk pregnant women, accounting for 0.96% of the total number of pregnant women, including 33 cases oftrisomy 21 syndrome, 8 cases oftrisomy 18 syndrome, 3 cases oftrisomy 13 syndrome and 10 suspected cases of abnormal X chromosome. Among the 54 high-risk pregnant women, 32 cases made amniocentesis, 19 cases did induced labor, the fetus of 2 cases stopped developing and a pregnant woman who did not make amniocentesis had a normal fetus. The detection rate of NIPT was 100% and the accuracy was 85.2%. Conclusion The accuracy of NIPT detection of cffDNA in peripheral blood of pregnant women is 85.2%, and its high accuracy and non-originality are suitable for large-scale pre- natal screening, which will make it becoming the main means of prenatal screening in the future.