无创产前筛查技术在产前筛查与诊断技术体系中的效能分析

目的:评价无创产前检测(non-invasive prenatal testing，NIPT)技术在产前筛查中的效能及其在产前诊断体系中的作用。方法:对22 649例单胎孕妇的产前筛查结果及诊断路径进行效能分析。对同期接受介入性产前诊断的9268例本院和转诊孕妇的指征及结局进行效能分析。结果:孕妇选择唐筛比例为60.2...

Analysis of the efficacy of non-invasive prenatal testing in the system of prenatal screening and diagnosis

Objective To evaluate the efficacy of non-invasive prenatal testing(NIPT)in the prenatal screening and its role in the system of prenatal diagnosis.Methods A total of 22649 singleton pregnant women who were registered and finally delivered or had induced labor at Beijing Obstetrics and Gynecology Hospital of Capital Medical University were enrolled.The routes of prenatal screening were analyzed to evaluate the efficacy of prenatal screening.Meanwhile,9268 pregnant women who underwent invasive prenatal diagnosis procedure were enrolled.The indications and results of prenatal diagnosis were analyzed to evaluate the effectiveness of prenatal screening.Results Sixty point two four percent singleton pregnant women opted for Down syndrome screening,and their age was mainly under 35.The proportion of women opted for NIPT was 34.74%,and were mainly between 35 and 39.The overall diagnostic rate of trisomy 21,18 and 13 trisomy for those with high risk by NIPT was 0.89%,which yielded a positive predictive value of 75.71%.For those with moderate risk by serum screening,0.30% was predicted with a high risk by NIPT.Among women undergoing prenatal diagnosis,63.04% and 21.22% had the indication of advanced age or high risk by serum screening,and the positive predictive values were 5.1% and 5.13%,respectively.By contrast,2.30% of women undergoing prenatal diagnosis had a high risk by NIPT,which yielded a positive predictive value of 54.46%.Conclusion With the change of the age composition of pregnant women and increase in thecomplexity of pregnancy in China,to build a prenatal screening system based on NIPT will be helpful to improve the efficiency of the current system of prenatal screening and diagnosis.