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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 using noninvasive prenatal genetic testing to detect chromosomal copy number of fetal plasma DNA in pregnant women. Methods From July 2011 to August 2015, 730 pregnant women (≥35 years old) with non-invasive prenatal genetic testing at Foshan MCH hospital were enrolled. The gestational age ranged from 12 to 24 weeks and the age ranged from 35 to 41 years , Are single-child. For non-invasive prenatal gene test results of pregnant women undergoing amniocentesis or umbilical cord blood puncture, routine chromosome karyotyping and / or gene chip detection. All elderly pregnant women were followed up by telephone and statistical analysis of the accuracy of non-invasive prenatal genetic testing. Results In 730 pregnant women, maternal plasma fetal DNA prenatal detection of 21 cases of fetal chromosomal abnormalities were found. Among them, 15 cases were diagnosed by invasive amniocentesis or umbilical vein puncture. Prenatal diagnosis of 21 trisomy 21, 45, X [7] / 46, i (X) 13] / 46, XX [37], 1 case, 47 cases, and 1 case of XXX. There was 1 case of microdeletion on chromosome 13, none of them was false negative. The detection rate of non-aneuploidy on common aneuploidy was 100%, sensitivity 100%, specificity 99.43%, false positive rate 0.57%, false negative rate 0, positive predictive value 73.33%. Conclusion Noninvasive prenatal genetic testing is highly sensitive and specific for the detection of abnormal fetal copy number in pregnant women. The false positive rate is very low. It has a wide range of prenatal detection of fetal chromosomal copy number variation in older pregnant women The application prospects.