短片段胎儿DNA富集技术可提高无创产前筛查的准确性
The short fragment fetal cell-free DNA enrichment techniques can improving the accuracy of non-invasive prenatal testing
吴小娟 1贺权泽 1张春花 1王挺1
作者信息
- 1. 苏州市立医院生殖与遗传中心,江苏苏州 215000
- 折叠
摘要
目的 探讨孕妇外周血中短片段胎儿DNA富集技术对降低无创产前筛查(NIPT)技术中假阳性和假阴性的可行性.方法 选取NIPT结果高风险而羊水穿刺核型分析正常(假阳性)以及NIPT结果低风险而羊水穿刺核型分析异常(假阴性)样本为研究对象.将假阳性和假阴性样本重建库后,通过E-GEL胶对短片段胎儿DNA进行富集后再测序分析,与常规NIPT结果进行对比分析.结果 常规NIPT假阳性结果Z值主要分布在3≤Z值＜6区间,在此区间21-三体、18-三体和13-三体的阳性预测值仅为22.58％、23.53％和21.43％.68例假阳性样本经短片段胎儿DNA富集后重新测序,胎儿游离DNA浓度由10.3％提高到28.7％,43例(63.24％)NIPT高风险结果转为低风险,阳性预测值分别提升至43.75％、44.44％和26.09％.4例假阴性样本经短片段胎儿DNA富集后,3例(75.00％)被正确检出.结论 对Z值落在3≤Z值＜6的筛查高风险样本利用短片段胎儿DNA富集技术进行二次检测,能够提高21-三体、18-三体和13-三体的阳性预测值,降低当前NIPT的假阳性率.同时富集技术能提高胎儿DNA浓度,降低假阴性率.
Abstract
ABSTRACT Objective To evaluate the feasibility of short fragment fetal cell-free DNA enrichment techniques in ma-ternal peripheral blood for non-invasive prenatal testing to reduce the false positive rate and false negative rate of traditional NIPT.Methods In this study,68 false positive cases and 4 false negative cases were retrospectively analyzed by E-GEL based size-selection NIPT.The NIPT results were compared with those of traditional NIPT.Results The Z value of traditional NIPT false positive results were mainly distributed in 3≤Z＜6,in which the positive predictive value of trisomy 21,trisomy 18 and trisomy 13 were only 22.58％,23.53％and 21.43％.Of the 68 false positive cases retested by E-GEL based size-selection NIPT,43(63.24％)had negative results,the fetal cfDNA fraction increased from 10.3％to 28.7％,and the positive predictive value of trisomy 21,trisomy 18 and trisomy 13 increased to 43.75％,44.44％and 26.09％,respectively.Of four false negative retested cases,3(75.00％)had positive size-selection NIPT results.Conclusion For the positive samples whose Z value distributed in 3≤Zvalue＜6,retseting by size-selection NIPT can improve the positive predictive value of trisomy 21,trisomy 18 and trisomy 13,and reduce the false positive rate of NIPT.Size-selection NIPT can increase the fetal cfDNA fraction,reduce the false positive rate of traditional NIPT.
关键词
无创产前筛查/胎儿游离DNA/富集/假阳性Key words
noninvasive prenatal testing/fetal cell-free DNA/enrichment/false positive引用本文复制引用
出版年
2024
NETL
NSTL
万方数据