无创产前基因检测技术临床应用的效果评价  

Clinical Effects of the Non-invasive Prenatal Testing

作　　者：鲜舒 杨潇[1] 王艳清[1] 程艳香[1] XIAN Shu;YANG'Xiao;WANG Yanqing;CHENG Yanxiang(Department of Obstetrics and Gynecology,People's Hospital of Wuhan University,Wuhan,430060,China)

机构地区：[1]武汉大学人民医院妇产科,武汉市430060

出　　处：《医学分子生物学杂志》2018年第6期426-429,共4页Journal of Medical Molecular Biology

基　　金：中华医学会临床医学科研专项基金(No.413000117)。

摘　　要：目的无创产前基因检测技术(non-invasive prenatal testing,NIPT)在武汉地区孕妇产前筛查唐氏综合征(Down syndrome,DS)的效果评价;方法采集2015年1月至2017年8月在武汉大学人民医院就诊孕妇外周血中胎儿游离DNA进行高通量测序,高风险者行羊膜腔穿刺术进行胎儿染色体核型分析;结果2963例孕妇中检出10例DS高风险胎儿及1例临界高风险,阳性检出率占0.37%(11/2963),11例中7例经羊水穿刺证实为DS,1例正常,2例未行穿刺术直接引产,1例失联。NIPT还检测出4例18-三体高风险和2例13-三体高风险,其中5例经羊水穿刺确诊4例,1例正常。2963例孕妇中共13例进行了有创性产前诊断,穿刺率为0.439%(13/2963);结论NIPT可作为侵入性产前诊断的补充,但仍需结合临床多项检测结果综合判断。Objective To evaluate the clinical effects of the non-invasive prenatal testing (NIPT)on prenatal screening for Down syndrome (DS)in Wuhan region.Methods The fetal free DNA in the peripheral blood of pregnant women was collected from People's Hospital of Wu- han University from January 2015to August 2017,and was subjected to high-throughput sequencing.High-risk pregnant women underwent amniocentesis for fetal chromosome karyotype analysis.Results A total of 2963cases of pregnant women received NIPT detection.Ten cases were diagnosed with high risk pregnancy,and 1case was at a critically high risk.The positive detection rate was 0.37%(11/2963).Among them,7cases were confirmed to be DS by amniocentesis, 1case was normal,2cases directly underwent induced labor with no puncture performed and 1case was lost to follow-up.NIPT also detected 4cases of 18-trisomy high risk and 2cases of 13-trisomy high risk.Among them,5patients underwent amniocentesis and 4were eventually confirmed,while 1case was normal.In 2963cases of pregnant women,invasive prenatal diagnosis was performed in 13cases.The puncture rate was 0.439%(13/2963).Conclusion NIPT can be used as a sup- plement for invasive prenatal diagnosis,but it still needs to be combined with a variety of clinical test results to make a comprehensive diagnosis.

关 键 词：无创产前基因检测 唐氏综合征 产前筛查 胎儿DNA 

分 类 号：R714.55[医药卫生—妇产科学]