10840例无创产前筛查数据的回顾性分析及挖掘

Retrospective analysis and mining of data from 10840 patients undergoing non-invasive prenatal screening

目的对来自两家机构的无创产前筛查(non-invasive prenatal screening,NIPS)数据进行回顾性分析。方法对10840份样本的NIPS结果进行分析,包括21/18/13-三体(T21/T18/T13)、性染色体及其他常染色体非整倍体以及拷贝数变异(copy number variations,CNVs),并对孕妇年龄、孕周、体质指数、胎儿游离DNA(cell-free fatal DNA,cff DNA)浓度进行关联分析。结果10840例孕妇的平均受孕年龄为(32.34±5.04)岁;NIPS检测的平均孕周为(17.60±3.55)周。T21/T18/T13筛查的总体假阳性率为0.11%,灵敏度为100%,特异性为99.89%,阳性预测值为81.5%。性染色体及其他常染色体非整倍体以及CNVs的阳性预测值分别为56.67%、11.76%和83.33%。高龄孕妇(≥35岁)胎儿T21/T18的发病率分别为低龄产妇的2.12倍(P<0.01)、1.81倍(P>0.05)。cff DNA与孕周成正比(r=0.207),与体质指数成反比(r=-0.177),在孕15周之前增长较缓,孕16周后以0.5%每周的速度增加。结论本研究中NIPS性能与文献报道基本一致,其结果可对后续研究提供参考。

Objective To retrospectively analyze non-invasive prenatal screening(NIPS)data from two centers.Methods The NIPS results of 10840 samples were analyzed,including 21/18/13 trisomies(T21/T18/T13),sex chromosome and other autosomal aneuploidies,and copy number variants(CNVs).The maternal age,gestational week,body mass index and concentration of free fetal DNA(cff DNA)were also analyzed.Results The average gestational age of the 10840 pregnant women was(32.34±5.04)year old,and the average gestational week for NIPS was(17.60±3.55)week.The overall false positive rate for T21/T18/T13 was 0.11%,sensitivity was 100%,specificity was 99.89%,and positive predictive value was 81.5%.The positive predictive values for sex chromosome and other autosomal aneuploidies and CNVs were 56.67%,11.76%and 83.33%,respectively.The incidence of T21/T18 in the elder women(35 years or elder)was 2.12 times(P<0.01)and 1.81 times(P>0.05)that of young women.cff DNA was in proportion to gestational week(r=0.207)and in inverse proportion to body mass index(r=-0.177).It has increased slowly before 15 weeks of gestation and thereafter at a rate of 0.5%per week after the 16th week.Conclusion The performance of NIPS in this study is by large close to the reported in the literature,and the results can provide a reference for further study.