无创产前检测在胎儿性染色体检测中的应用价值  

Noninvasive prenatal screening for fetal sex chromosome aneuploidies from maternal blood

作　　者：宋春林[1] 郭晓玲[1] 陈淑芬[1] 刘鼎[1] 周成[1] SONG Chun-lin;GUO Xiao-ling;CHEN Shu-fen;LIU Ding;ZHOU Cheng.(Foshan Maternal and Children Health Care Hospital, Foshan, 52800)

机构地区：[1]佛山市妇幼保健院,广东佛山528000

出　　处：《中国优生与遗传杂志》2018年第5期36-37,52,共3页Chinese Journal of Birth Health & Heredity

基　　金：佛山市科技局科技攻关项目(项目编号2015AB0409);佛山市医学类科技攻关项目(项目编号2016AB002301)

摘　　要：目的探讨以母体外周血游离DNA进行大规模平行基因测序技术用于胎儿性染色体无创产前基因检测的可行性。方法选择在充分知情同意下自愿参加无创产前基因检测的满12周的孕妇作为研究对象,抽取静脉外周血10m L,提取游离胎儿DNA,在高通量测序仪上测序,通过比对数据库判断为性染色体异常的给予遗传咨询,在知情选择下行羊水穿刺作核型分析。结果本院2015年4月至2017年9月,共有13 505位孕妇行无创产前基因检测,无创产前基因检测结果显示91位(0.67%)孕妇为性染色体异常,包括Chr X-:43例;Chr X-(Y):6例,Chr X+:16例,Chr X+(Y):19例,Chr Y+:7例。87例接受随访,66例接受产前诊断,40例核型结果与无创产前检测结果一致。胎儿性染色体的无创产前基因检测的总体阳性预测值为60.6%(40/66)。结论无创产前基因检测(NIPT)技术可用于性染色体异常的检测,但阳性预测值有待进一步提高。Objective：To explore the feasibility of high-throughput massively parallel genomic DNAsequencing technology for the noninvasive prenatal detection of fetal sex chromosomeaneuploidies（SCAs）. Methods：The study enrolled pregnant women who were prepared to undergo noninvasiveprenatal testing（NIPT）in the second trimester. Cell-free fetal DNA（cff DNA）was extracted fromthe mother′s peripheral venous blood and a high-throughput sequencing procedure wasundertaken. Patients identified as having pregnancies associated with SCAs were offered prenatalfetal chromosomal karyotyping. Results：The study enrolled 13 505 pregnant women who were prepared to undergo NIPT in our hospital from Apr. 2015 to Sep. 2017. Of these,91 pregnant women（0.67%）showed fetal SCA,including 43 with Turner syndrome（45,X）,16 with Triple X syndrome（47,XXX）,19 with Klinefelter syndrome（47,XXY）and 7 with 47,XYY. 66 pregnant women agreed to undergo fetal karyotyping and 40 had results consistent with NIPT. The overall positive predictive value of NIPT for detecting SCAs was 60.6%（40/66）. Conclusion：NIPT can be used to identify fetal SCAs by analysing cff DNA using massively parallel genomic sequencing,although the accuracy needs to be improved.

关 键 词：无创产前基因检测 性染色体非整倍体 高通量测序 胎儿游离DNA 

分 类 号：R714.55[医药卫生—妇产科学]