NIPT-plus技术在胎儿性染色体非整倍体检测中的应用  

Application of NIPT-plus Technique in the Detectionof Aneuploidy of Fetal Sex Chromosome

作　　者：王文 熊卿圆 许华英 WANG Wen;XIONG Qingyuan;XU Huaying(Gynaecology and Obstetrics Department,Foshan Chancheng Central Hospital,Foshan Guangdong 528000,China)

机构地区：[1]广东省佛山市禅城区中心医院妇产科,广东佛山528000

出　　处：《中国继续医学教育》2021年第14期146-150,共5页China Continuing Medical Education

基　　金：广东省佛山市科技计划项目(2018AB001271)。

摘　　要：目的探讨应用升级版的无创产前基因检测(NIPT-plus)技术在产前筛查性染色体非整倍体综合征的临床价值。方法选择佛山市禅城区中心医院门诊产检单活胎孕妇,经医院伦理学委员会审批同意,签署知情同意书后进行NIPT-plus检测,对检测结果提示性染色体高风险者经患者同意后行羊水穿刺,进行羊水细胞染色体核型。结果2418例孕妇中,NIPT-plus筛查提示胎儿出性染色体高风险者有10例,高风险率为0.41%(10/2418)。经染色体核型分析,4例为性染色体非整倍体,47,XYY(2例),47,XXX(1例),45,X(1例);1例为46,XN,Xdel(x)(p22.1p22.3);1例为46,XN,del(16)(p12p13),1例为46,XN,del(5)(p14),1例为46,XN,21pss。性染色体异常阳性预测值为60%(6/10),性染色体非整倍体阳性预测值为70%(7/10)。其他异常特定CNVs疾病检出2例,阳性预测值为50%(1/2);而其中有1例异常特定CNVs疾病检提示为NIPT-PLUS性染色体高风险,孕妇中的染色体非整倍体异常阳性预测值为66.67%(8/12),阳性率为0.33%(8/2418)结论NIPT-plus可用于胎儿性染色体非整倍体异常筛查,筛查阳性者需行羊水穿刺进一步确诊。Objective To explore the clinical value of NIPT-plus in prenatal screening for sexual chromosome aneuploidy syndrome.Methods After the approval of ethics committee of Foshan City Central Hospital and the signing of informed consent form,NIPT plus test was carried out for pregnant women with live fetus.Amniocentesis was carried out for those with high risk of sex chromosome and karyotype of amniotic cell was carried out after the consent of patients.Results Among the 2418 pregnant women,nipt-plus screening revealed a high risk of fetal sex chromosomes in 10 cases,with a high risk rate of 0.41%(10/2418).By karyotype analysis,4 cases were sex chromosome aneuploidy,47,XYY(2 cases),47,XXX(1 case),45,X(1 case).One case was 46,XN,Xdel(x)(p22.1,p22.3).One case was 46,XN,del(16)(p12p13),one case was 46,XN,del(5)(p14),and one case was 46,XN,del(16)(p12pss).The positive predictive value of sex chromosome abnormality was 60%(6/10),and the positive predictive value of sex chromosome aneuploidy was 70%(7/10).Other abnormal CNVs diseases were detected in 2 cases,with a positive predictive value of 50% (1/2).The diseaseexamination of abnormal CNVs in 1 case indicated that thesex chromosome of nipt-plus was at high risk. The positivepredictive value of abnormal chromosome aneuploidy inpregnant women was 66.67% (8/12), and the positive ratewas 0.33% (8/2 418). Conclusion NIPT plus can be usedfor the screening of fetal aneuploidy, and amniocentesis isneeded for further diagnosis.

关 键 词：无创产前基因检测 性染色体非整倍体异常 高通量测序 孕妇 胎儿 产前筛查 

分 类 号：R596[医药卫生—内科学]