天津市15395例无创产前基因检测结果回顾性分析

Retrospective analysis of 15395 cases of noninvasive prenatal gene test results in Tianjin

目的探讨无创产前基因检测技术在产前筛查和产前诊断临床应用中的适用性和准确性。方法对天津市滨海新区妇女儿童保健和计划生育服务中心2015年12月28日-2018年5月23日的15 395例无创产前基因检测结果进行回顾性分析,针对无创检测结果异常的孕妇建议进一步行产前诊断、遗传咨询及妊娠结局的追访。结果进行无创产前基因检测总人数为15 395例,收到无创产前筛查异常报告110例。其中通过羊水穿刺后,确诊21-三体综合征24例,准确率最高达96%;确诊18-三体综合征5例,准确率45%;确诊13-三体0例,准确率0%;确诊性染色体XXX异常4例,准确率66%;确诊性染色体XXY异常6例,准确率86%;确诊性染色体XYY异常3例,准确率75%;确诊性染色体偏多/偏少1例,准确率13%;确诊其他染色体异常及微缺失微重复异常2例,准确率27%。结论无创基因检测应用于21-三体综合征检出率最高,降低了出生缺陷,具有较高的临床应用价值。且较产前诊断易于让患者接受,可作为产前诊断的有效辅助手段。

Objective To explore the applicability and accuracy of non invasive prenatal gene test technology in prenatal screening and diagnosis.Methods A retrospective analysis was performed on the 15 395 cases of noninvasive prenatal gene test results from December 28,2015 to May 23,2018 in Tianjin Binhai New Area Maternal and Children’Health Care and Family Planning Service Center.For pregnant women with abnormal noninvasive test results,prenatal diagnosis,genetic counseling and follow-up of pregnancy outcomes were then conducted.Results A total of 15 395 cases of noninvasive prenatal gene tests were performed,and 110 abnormal reports of noninvasive prenatal screening were received.Through using amniocentesis,of all the patients,24 cases of trisomy 21 syndromes were confirmed,with the highest accuracy rate(96%);5 cases of trisomy 18 syndromes were confirmed,with the accuracy rate accounting for 45%;0 case of trisomy 13 syndromes was confirmed,with the accuracy rate accounting for 0%;sex chromosome XXX abnormality was confirmed in 4 cases,with the accuracy rate accounting for 66%;sex chromosome XXY abnormality was confirmed in 6 cases,with the accuracy rate accounting for 86%;sex chromosome XYY abnormality was confirmed in 3 cases,with the accuracy rate accounting for 75%;the abnormality of excessively more or less sex chromosome was confirmed in 1 case,with the accuracy rate accounting for 13%;other chromosomal abnormalities as well as microdeletions and microduplication abnormalities were confirmed in 2 cases,with the accuracy rate accounting for 27%.Conclusion Noninvasive prenatal gene test technology has the highest detection rate of trisomy 21 syndrome,reduces the birth of birth-defect babies,which is of high value in clinical application and easier to be accepted by patients than prenatal diagnosis.It can be used as an effective auxiliary means of prenatal diagnosis technology.