应用孕妇血浆中胎儿游离DNA进行产前筛查的临床研究进展  

Clinical study of prenatal screening using fetal free DNA in maternal plasma

作　　者：李晓洲[1] 史云芳[1] 琚端[1] 李岩[1] 张颖[1] LI Xiao-zhou;SHI Yun-fang;JU Duan;LI Yan;ZHANG Ying(Department of Gynaecology and Obstetrics,General Hospital of Tianjin Medial University,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院妇产科,300052

出　　处：《天津医药》2020年第8期796-800,共5页Tianjin Medical Journal

基　　金：国家自然科学基金资助项目(81901502)。

摘　　要：无创产前检测(NIPT)是采用二代测序技术对孕妇血浆中胎儿游离DNA(cffDNA)片段进行检测,通过生物信息学分析进行常见的胎儿染色体非整倍体异常的筛查。因其具有较高的检出率、敏感度和特异度以及较低的假阳性率,成为目前广泛应用的染色体非整倍体的产前筛查技术。通过NIPT筛查高风险孕妇选择性进行有创产前诊断,可避免大量不必要的有创性产前诊断。母体及胎儿因素可影响NIPT检测结果。临床应用时应充分考虑不同孕妇的个体情况。本文就应用孕妇血浆中cffDNA进行NIPT的临床研究进展及其影响因素进行综述,为个体化、规范化应用NIPT技术提供参考。Noninvasive prenatal testing(NIPT)is performed for screening fetal aneuploidy through the next generation sequencing technology with cell-free DNA(cfDNA)in maternal plasma.It is currently the best prenatal screening technology for detecting chromosome aneuploidy,because of its high detection rate,sensitivity and specificity,and low false-positive rate.Especially,NIPT,which has been available clinically,improves significantly the efficiency of invasive prenatal diagnostic technology.However,some maternal and fetal factors can affect the results of NIPT,so that the individual situation of different pregnant women should be fully considered in clinical application.In this paper,the clinical research progress and influencing factors of NIPT were reviewed in order to provide a reference for individualized and standardized application of NIPT technology.

关 键 词：产前诊断 染色体障碍 染色体畸变 胎儿游离DNA 无创产前检测 

分 类 号：R715.5[医药卫生—妇产科学]