无创基因检测技术在产前诊断中的应用价值

Application Value of Noninvasive Genetic Testing Technology in Prenatal Diagnosis

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 application value of noninvasive genetic testing technology in prenatal diagnosis. Methods From January 2013 to June 2015, selected in this stage in Dongguan City Maternal and Child Health Hospital for prenatal noninvasive genetic testing of 1,000 cases of maternal research, screening out the high risk of pregnancy pregnant women. And then analysis the high risk of maternal amniocentesis cells chromosome karyotype. To calculate the sensitivity, specificity, accuracy, positive predictive rate and negative predictive rate of noninvasive gene detection to the risk of pregnancy, and to conduct follow-up of pregnant women with negative noninvasive gene detection. Results 1000 cases of pregnant women after noninvasive genetic screening were screened out of 32 cases of high risk of maternal. The diagnostic sensitivity, specificity, accuracy, positive predictive rate and negative predictive rate of 21-trisomy syndrome were 100%. The sensitivity, specificity, accuracy, positive predictive rate and negative predictive rate of 18-trisomy syndrome were 100 %, 99.90 %, 99.9 %, 92.31% and 100 % respectively. The sensitivity, specificity, accuracy, positive predictive rate and negative predictive rate of 13-trisomy syndrome were all 100%, which were consistent with the results of cell chromosome karyotype analysis. 965 cases of negative maternal telephone follow-up results showed that the newborn was not abnormal after delivery. Conclusion In the prenatal use of noninvasive gene detection technology for maternal screening, can effectively screen out the high risk of pregnancy maternal, with the advantages of accuracy and safety.