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目的:研究并探讨无创基因检测技术在产前诊断中的应用价值。方法:选取于2013年1月至2015年6月在东莞市妇幼保健院进行产前无创基因检测的1000例孕产妇,筛选出妊娠高风险孕妇,再对高风险孕妇进行羊膜腔穿刺细胞染色体核型分析,计算无创基因检测对各妊娠风险的诊断敏感性、特异性、准确性、阳性预测率、阴性预测率,并对无创基因检测为阴性的孕产妇进行电话随访。结果:1000例孕妇经无创基因检测共筛选出32例高风险孕妇,21-三体综合征的诊断敏感性、特异性、准确性、阳性预测率、阴性预测率均为100%,18-三体综合征的敏感性、特异性、准确性、阳性预测率、阴性预测率分别为100%、99.90%、99.9%、92.31%、100%,13-三体综合征的敏感性、特异性、准确性、阳性预测率、阴性预测率均为100%,均与细胞染色体核型分析结果具有良好的一致性。965例阴性孕产妇电话随访结果显示,新生儿娩出后均未出现异常。结论:在产前采用无创基因检测技术对孕产妇进行筛查,可有效筛选出高风险妊娠孕产妇,具有准确、安全的优点。
Objective: To study and discuss the value of non-invasive genetic testing in prenatal diagnosis. Methods: From January 2013 to June 2015 in Dongguan Maternal and Child Health Hospital for prenatal non-invasive genetic testing of 1000 pregnant women, screening for high-risk pregnant women, and then high-risk pregnant women amniocentesis cell chromosome nuclear Type analysis, the diagnostic sensitivity, specificity, accuracy, positive predictive rate and negative predictive value of noninvasive genetic testing for the risk of pregnancy were calculated, and telephone follow-up was conducted on pregnant women who were negative for non-invasive genetic testing. Results: A total of 32 high-risk pregnant women were screened from 1000 pregnant women by noninvasive genetic testing. The diagnostic sensitivity, specificity, accuracy, positive predictive rate and negative predictive value of 21-trisomy syndrome were 100%, 18- The sensitivity, specificity, accuracy, positive predictive rate and negative predictive rate of body syndrome were 100%, 99.90%, 99.9%, 92.31%, 100%, respectively. The sensitivity, specificity, Accuracy, positive predictive rate, negative predictive rate were 100%, with the results of cell chromosome karyotype analysis has good consistency. 965 cases of negative maternal telephone follow-up showed no abnormalities after delivery. Conclusion: Prenatal noninvasive genetic testing of maternal screening can effectively screen high-risk pregnant women, with accurate and safe advantages.