无创产前基因检测在胎儿染色体非整倍体检测中的应用价值  

Application value of non-invasive prenatal test in the diagnosis fetal chromosome abnormalities

作　　者：黄萍华 唐萍[1] 周赤燕[1] 高丹苑 王建国 祝建军[1] HUANG Pinghua;TANG Ping;ZHOU Chiyan;GAO Danyuan;WANG Jianguo;ZHU Jianjun(Department of Fetal Medical Center,Jiaxing Maternal and Child Health Hospital,Jiaxing 314000,China)

机构地区：[1]嘉兴市妇幼保健院胎儿医学中心,314000

出　　处：《浙江医学》2023年第17期1862-1865,共4页Zhejiang Medical Journal

基　　金：浙江省医药卫生科技计划项目(2023KY337);浙江省自然科学基金项目(LQ21H160040)。

摘　　要：目的探讨无创产前基因检测(NIPT)在胎儿染色体非整倍体检测中的应用价值。方法选取2017年至2022年在嘉兴市妇幼保健院产前诊断中心接受NIPT的孕妇35531例,采集孕妇外周血,提取胎儿游离DNA,构建文库并测序。在充分知情同意的前提下,对NIPT提示为高风险的孕妇行染色体微阵列分析(CMA)及羊水染色体核型分析的介入性产前诊断。比较NIPT和介入性产前诊断结果,分析NIPT对胎儿染色体异常的检出符合率。结果35531例孕妇中,共检出染色体异常风险孕妇512例(1.44%)。其中,448例孕妇选择染色体核型分析,214例孕妇选择CMA。对NIPT高风险孕妇经介入性产前诊断,对比染色体核型和CMA的检查结果,NIPT的21-三体综合征检出符合率最高,分别为95.19%和95.83%;而其他染色体异常的检出符合率最低,分别为16.46%和28.97%。结论NIPT对于21-三体综合征具有较高的检出符合率,而对于其他染色体异常的检出符合率偏低,需结合介入性产前诊断进一步检测,以确保产前诊断结果的准确性。Objective To explore the application value of non-invasive prenatal test(NIPT)in the diagnosis of fetal chromosomal abnormalities.Methods The peripheral blood samples were collected from 35531 pregnant women who received NIPT in the Prenatal Diagnosis Center of Jiaxing Maternal and Child Health Hospital from 2017 to 2022,fetal free DNA was extracted,and a library was constructed and sequenced.For pregnant women with high risk indicated by NIPT,the invasive chromosomal microarray analysis(CMA)and karyotype analysis were performed with informed consent.The results of NIPT and invasive prenatal diagnosis were compared to analyze the coincidence rate of NIPT in detecting fetal chromosomal abnormalities.Results Among 35531 women receiving NIPT 512(1.44%)were indicated as high risk,for whom karyotype analysis was performed in 448 cases and CMA in 214 cases.The coincidence rate of NIPT with karyotype and CMA for trisomy 21 syndrome was the highest(95.19%and 95.83%),while that for other chromosomal abnormalities was the lowest(16.46%and 28.97%).Conclusion For trisomy 21 syndrome,NIPT has a high detection coincidence rate,while for other chromosomal abnormalities the detection rate is low,and the invasive prenatal diagnosis should be followed to ensure the accuracy of prenatal diagnosis.

关 键 词：无创产前基因诊断 染色体异常 介入性产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]