无创产前检测在高龄孕妇中检测胎儿非整倍体的临床应用  

Application of high-throughput sequencing in the diagnosis of fetal aneuploidies in women with advanced maternal age

作　　者：陈英苹 郑芳秀[1] 周琴[1] 张晓青[1] 张玢[1] 黄瑞萍[1] 缪婷婷[1] 虞斌[1] 

机构地区：[1]南京医科大学附属常州妇幼保健院,常州213003

出　　处：《生殖与避孕》2016年第9期708-711,共4页Reproduction and Contraception

摘　　要：目的:探讨高通量测序(HTS)技术在高龄孕妇胎儿染色体非整倍体筛查中的临床应用。方法:2 090例单胎高龄孕妇行无创产前检测(NIPT),结果异常的孕妇再行羊膜腔穿刺,羊水细胞培养后染色体G320显带核型分析。结果:2 090例样本中,高通量基因测序提示22例胎儿染色体非整倍体高风险,19例孕妇自愿接受羊水产前诊断,其中16例羊水G带核型结果与NIPT测序结果一致,包括12例T21,2例T18,2例性染色体异常,阳性预测值为84.2%(16/19)。结论:对于拒绝接受介入性产前诊断的高龄孕妇,临床可推荐无创的高通量基因测序产前检测技术,进一步降低出生缺陷儿的发生率。Objective： To investigate the application of non-invasive prenatal testing （NIPT） in the diagnosis of fetal chromosomal aneuploidies in women with advanced maternal age. Methods： A total of 2 090 pregnant women with advanced maternal age conducted NIPT were collected. The cases of chromosomal abnormalities were advised to carry out prenatal fetal chromosomal karyotype analysis of amniotic fluid cells using G320-banding technique. Results： High-throughput sequencing （HTS） revealed 22 cases of chromosomal aneuploidies in 2 090 pregnant women. After receiving informed consent, 19 cases of pregnant women voluntarily received amniotic fluid prenatal diagnosis, of which l 6 cases were consistent with the sequencing results, including 12 cases of T21, 2 cases of T18 and 2 cases of sex chromosomal abnormalities, positive predictive value was 84.2% （l 6/19）. Conclusion： If those refuse to accept interventional prenatal diagnosis, pregnant women with advanced maternal age can be suggested to screen out birth defects by HTS, which will be useful to reduce the rate of birth defects.

关 键 词：高通量测序(HTS) 高龄 无创产前检测(NIPT) 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]