无创性产前基因检测技术在未行血清学筛查的高龄孕妇中的应用  

Application of noninvasive prenatal genetic testing for chromosome copies abn-ormalities in advanced maternal age pregnant women without serum screening

作　　者：杨兴坤[1] 郭晓玲[1] 钟进[1] 陈志华[1] 吴水娟[1] 

机构地区：[1]佛山市妇幼保健院产前诊断中心,广东佛山528000

出　　处：《中国优生与遗传杂志》2016年第5期35-37,共3页Chinese Journal of Birth Health & Heredity

基　　金：佛山市医学类科技攻关项目(201308002)

摘　　要：目的探讨应用无创性产前基因检测技术对孕妇血浆胎儿游离DNA进行染色体拷贝数检测的可行性。方法选择2011年10月至2015年8月于佛山市妇幼保健院行无创性产前基因检测的730例高龄孕妇(年龄≥35岁),孕周:12-24周,年龄:35-41岁,均为单胎。对无创性产前基因检测结果阳性的孕妇行羊膜腔穿刺或脐静脉血穿刺,行常规染色体核型分析和/或基因芯片检测。对所有高龄孕妇行电话随访,统计分析无创性产前基因检测的准确性。结果 730例孕妇中,母体血浆胎儿游离DNA产前基因检测技术发现21例胎儿染色体拷贝数异常者。其中15例通过羊膜腔穿刺或脐静脉血穿刺行有创性产前诊断,检出21三体7例,45,X[7]/46,i(X)(q10)[23]和45X[13]/46,XX[37]各1例,47,XXX1例,13号染色体微缺失1例,无一例假阴性。无创性非整倍体检测对常见染色体非整倍体的检出率100%,灵敏度100%,特异度99.43%,假阳性率0.57%,假阴性率为0,阳性预测值73.33%。结论无创性产前基因检测技术用于高龄孕妇检测胎儿染色体拷贝数异常具有高度敏感性和特异性优点,假阳性率很低,在对高龄孕妇的胎儿染色体拷贝数变异的产前检测中具有广泛的应用前景。Objective：To investigate the feasibility of noninvasive prenatal gene-tic testing for chromosome copies abnormalities in advanced maternal age. Methods：730 cases of advanced maternal age pregnant women were chosen to analyze their cell-free fetal DNA copy numbers from maternal plasma.Fetal kar-yotyping was also carried out on amniocentesis or cordocentesis if the results of noninvasive prenatal genetic testing were positive.Karyotyping or/and gene chip were performed as a golden standard.All subjects were followed up throu-gh telephone. Results：21 cases were found high risk of chromosome copies ab-normalities by noninvasive prenatal genetic testing,among which 15 were con-firmed by karyotyping or gene chip.15 cases were performed amniocentesis or cordocentesis,among which 7 cases of trisomy 21,1 case of 45,X[7]/46,i（X）（q10）[23] and 45X[13]/46,XX[37] repectively,1 case of 47,XXX and 1 case of microdeletion on chromosome 13 were found.There was not any false negative case.The sensitivity,specificity and positive predictive value of it were 100.00%,99.43% and 73.33% respectively.The false positive rate was 0.57%. Conclusion：Noninvasive prenatal genetic testing can be popularized for detection of chromosome copies abnormalities in advanced maternal age,which has advantage-es of high sensitivity and specificity.

关 键 词：无创产前基因检测 高龄孕妇 染色体拷贝数 胎儿游离DNA 

分 类 号：R714.55[医药卫生—妇产科学]