北京市NIPT产前筛查的临床应用效果分析  

Clinical effect analysis of NIPT prenatal screening in Beijing

作　　者：张彦春[1] 刘凯波[1] 张雯[1] 徐宏燕[1] Zhang Yan-Chun;Liu Kai-Bo;Zhang Wen;Xu Hong-Yan(Beijing Maternity Hospital Affiliated to Capital Medical University/Beijing Maternal and Child Health Care Hospital,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院,北京100026

出　　处：《解放军医学杂志》2023年第7期797-801,共5页Medical Journal of Chinese People's Liberation Army

基　　金：国家重点研发计划(2018YFC1002304)。

摘　　要：目的分析北京市孕妇外周血胎儿游离DNA无创产前检测(NI P T)对胎儿染色体非整倍体筛查的效率,并评价NIPT在产前筛查中的临床效果。方法收集2019年1月-2020年12月在北京市8家产前诊断机构行NIPT产前筛查的133899例孕妇的临床资料进行回顾性分析,记录检测指征、检测结果和产前诊断结果。所有孕妇按照检测指征计算阳性率;按照检测结果分为21-三体综合征、18-三体综合征、13-三体综合征、性染色体异常、其他染色体异常,计算产前诊断率、阳性率、阳性预测值、敏感度和特异度。结果NIPT筛查指征中高龄孕产妇检测占比最高,达34.0%(45509/133899),其次为自愿要求,占32.7%(43860/133899)。NIPT高风险1647例,阳性率为1.2%(1647/133899),其中胎儿颈后透明层厚度(NT)增厚和超声结构异常孕妇的阳性率最高。NIPT高风险孕妇中1348例进行了产前诊断,18-三体综合征高风险的产前诊断率最高,为91.5%(130/142),最低的是性染色体异常率,为76.4%(488/639),总体产前诊断率为81.8%(1348/1647)。21-三体综合征、18-三体综合征、13-三体综合征、性染色体异常和其他染色体异常的阳性率分别为0.2%(318/133899)、0.1%(142/133899)、0.1%(77/133899)、0.5%(639/133899)和0.4%(471/133899),阳性预测值分别为71.1%(226/318)、38.0%(54/142)、18.2%(14/77)、31.3%(200/639)和17.8%(84/471)。21-三体综合征、18-三体综合征及13-三体综合征的筛查敏感度分别为98.7%、96.4%和100.0%,特异度均为99.9%。结论NIPT的筛查敏感度和特异度较高,但仍存在假阳性和假阴性的可能。NIPT高风险孕妇应行产前诊断,加强检测前后的遗传咨询至关重要。Objective To evaluate the clinical effect of non-invasive prenatal testing(NIPT)by analyzing the efficiency of fetal chromosomal aneuploidy screening in Beijing.Methods The clinical data of 133899 pregnant women,who underwent NIPT in eight prenatal diagnosis institutions of Beijing from January 2019 to December 2020,were collected and retrospectively analyzed.The test indications,results and prenatal diagnosis results were recorded.The positive rate of all pregnant women was calculated according to the test indications;According to the test results,it can be divided into trisomy 21 syndrome,trisomy 18 syndrome,trisomy 13 syndrome,sex chromosome abnormality,and other chromosome abnormalities.The prenatal diagnosis rate,positive rate,positive predictive value(PPV),sensitivity and specificity were calculated.Results Among the NIPT screening indicators,the detection rate of elderly pregnant women was the highest,accounting for 34.0%(45509/133899),followed by voluntary requirements,accounting for 32.7%(43860/133899).There were 1647 cases with high risk of NIPT,the positive rate was 1.2%(1647/133899),and the positive rate of NT thickening and ultrasound structure abnormal were the highest in pregnant women.One thousand three hundred and forty-eight cases received prenatal diagnosis.The highest prenatal diagnostic rate was trisomy 18 reached to 91.5%(130/142),the lowest was the rate of sex chromosome abnormality reached to 76.4%(488/639).The overall prenatal diagnostic rate was 81.8%(1348/1647).The positive rates of trisomy 21,trisomy 18,trisomy 13,sex chromosome abnormality and other chromosomes abnormality were 0.2%(318/133899),0.1%(142/133899),0.1%(77/133899),0.5%(639/133899)and 0.4%(471/133899),respectively.The positive predictive values were 71.1%(226/318),38.0%(54/142),18.2%(14/77),31.3%(200/639)and 17.8%(84/471),respectively.The sensitivity of trisomy 21,trisomy 18 and trisomy 13 was 98.7%,96.4%and 100.0%,and all the specificity of was 99.9%.Conclusions The NIPT had high sensitivity and specificity but also still

关 键 词：无创产前检测 阳性预测值 产前诊断率 

分 类 号：R715.5[医药卫生—妇产科学]