无创基因检测对胎儿染色体异常筛查中的应用

Application of noninvasive gene testing to fetal chromosome abnormality screening

目的探讨无创基因检测在胎儿染色体异常筛查中的应用价值。方法选取2015年4月至2020年11月于本院实施无创基因检测的39675例孕妇作为研究对象,以羊膜腔穿刺术检测结果为金标准,统计实施无创基因检测例数与检出情况。结果2015年阳性率为0.74%,阳性预测值为50.00%;2016年阳性率为0.50%,阳性预测值为60.00%;2017年阳性率为0.24%,阳性预测值为36.36%;2018年阳性率为0.31%,阳性预测值为40.63%;2019年阳性率为0.40%,阳性预测值为57.81%;2020年1—11月阳性率为0.28%,阳性预测值为49.06%。结论无创基因筛查可作为胎儿染色体异常筛查首选方案,高深度的产前无创基因检测也给产前筛查提供有利条件,但为进一步确保筛查结果,针对检测结果为阳性者可实施侵入性产前诊断,无创基因检测对产前筛查质量有一定推动作用。

Objective To explore the application value of noninvasive gene testing for fetal chromosome abnormality screening.Methods 39675 pregnant women who underwent noninvasive gene testing in our hospital from April 2015 to November 2020 were selected as the research subjects.The number and detection of noninvasive gene testing were counted based on the results of amniocentesis.Results In 2015,the positive rate was 0.74%and the positive predictive value was 50.00%;in 2016,the positive rate was 0.50%and the positive predictive value was 60.00%;in 2017,the positive rate was 0.24%and the positive predictive value was 36.36%;in 2018,the positive rate was 0.31%and the positive predictive value was 40.63%;in 2019,the positive rate was 0.40%.The positive predictive value was 57.81%,the positive value was 0.28%and the positive predictive value was 49.06%from January to November 2020.Conclusion Noninvasive gene screening can be used as the preferred screening program for fetal chromosome abnormalities,high-depth noninvasive prenatal genetic testing also provides favorable conditions for prenatal screening,in order to further ensure screening results,invasive prenatal diagnosis can be carried out for those with positive test results.