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  

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

作　　者：王一鹏[1] 李珊珊[1] 王威[1] 王昕[1] 李莉[1] 阴赪宏[1] Wang Yipeng;Li Shanshan;Wang Wei;Wang Xin;Li Li;Yin Chenghong(Prenatal Diagnostic Center,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院产前诊断中心,100026

出　　处：《中华医学遗传学杂志》2021年第4期309-312,共4页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2016YFC1000101);首都临床特色应用研究(Z181100001718108)。

摘　　要：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22649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60.24%,年龄主要为35岁以下;选择NIPT者比例为34.74%,年龄主要为35~39岁。NIPT对于胎儿21、18、13三体高风险的总体检出率为0.89%,阳性预测值为75.71%,其中唐筛临界风险孕妇的NIPT高风险检出率为0.30%。高龄孕妇和唐筛高风险孕妇人数占产前诊断孕妇63.04%和21.22%,阳性预测值为5.1%和5.13%。NIPT高风险孕妇人数占产前诊断孕妇的2.30%,阳性预测值为54.46%。结论随着中国孕妇年龄结构的改变和妊娠复杂性的增加,以NIPT为主的筛查模式将有助于提升现有产前筛查和诊断技术体系的效能。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.

关 键 词：无创产前筛查 唐氏综合征血清学筛查 产前筛查 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]