新一代高通量测序技术在产前胎儿CNVs检测中的应用效果  

Application effect of the new generation high-throughput sequencing in the detection of prenatal fetal copy number variations

作　　者：沈寅琛[1] 蒙燕[1] 曾革 卢秀华[1] 李红[1] SHEN Yinchen;MENG Yan;ZENG Ge;LU Xiuhua;LI Hong(Nanning Maternal and Child Health Care Hospital,Nanning,Guangxi Zhuang Autonomous Region,530011)

机构地区：[1]广西壮族自治区南宁市妇幼保健院,530011

出　　处：《中国计划生育学杂志》2023年第8期1987-1990,共4页Chinese Journal of Family Planning

基　　金：广西壮族自治区卫健委科研课题(Z20201220)。

摘　　要：目的:比较高通量测序技术对B超检测异常胎儿全基因组拷贝数变异(CNVs)产前诊断的应用价值。方法:选择2020年1月-2021年12月本院产前B超检查胎儿结构异常或软指标异常的孕中期孕妇,分别收集B超检测异常胎儿的羊水及脐血样本,采用高通量测序技术联合染色体核型技术进行检测。结果:获得羊水样本2187例,B超检测结构异常胎儿529例(24.2%),软指标异常胎儿1658例(75.8%);获得脐血样本325例,B超检测结构异常胎儿22例(6.8%),软指标异常胎儿303例(93.2%)。羊水样本中B超检测异常胎儿使用染色体核型检测异常率(10.0%)低于CNVs检测技术(22.1%),脐血样本中B超检测异常胎儿使用染色体核型检测异常率(6.8%)也低于CNVs检测技术(25.2%)。羊水样本中,CNVs检测染色体核型异常胎儿的灵敏度为99.5%,特异度100.0%(1/1);CNVs检测染色体核型正常胎儿的灵敏度为99.9%(1961/1964),特异度100.0%(5/5)。脐血样本中,CNVs检测染色体核型异常胎儿的灵敏度为95.5%,特异度为100.0%(4/4);CNVs检测染色体核型正常胎儿的灵敏度为95.7%,特异度100.0%(4/4)。结论:高通量测序技术对于B超筛查的异常胎儿CNVs产前检测异常率高于染色体核型技术,一定程度提高产前诊断水平,更好地作为产前染色体核型分析技术的补充。Objective:To compare the application value of high-throughput sequencing and B-ultrasonography in the de-tection of prenatal fetal copy number variations(CNVs).Methods:The pregnant women with fetal structural abnor-malities or with abnormal soft indicators by prenatal B-ultrasonography during the second trimester of prcegnancy from.January 2020 to December 2021 were selected in this study.The amniotic fluid and umbilical cord blood samples of the abnormal fetuses screened by B ultrasonography were ollcted for detection by high-throughput sequencing technology combined with chromosome karyotype technology.Results:There were 2187 amniotic fluid samples were obtained from the fetuses,including 529(24.2%)fetuses with abnormal structure by ultrasound and 1658(75.8%)fetuses with abnormal soft indexes found by ultrasound.There were 325 cord blood samples were obtained from the fetuses,including 22(6.8%)fetuses with abnormal structure by ultrasound and 303(93.2%)fetuses with abnormal soft indi-cators detected by ultrasound.The abnormal rate(10.0%)of abnormal fetal chromosome karyotype detection in the amniotic fluid samples of the fetuses with abnormal B-ultrasound results was significantly lower than that(22.1%)of CNVs detection,and the abnormal rate(6.8%)of abnormal fetal chromosome karyotype detection in cord blood sam-ples of the fetuses with abnormal B-ultrasound results was significantly lower than that(25.2%)of CNVs detection.In the amniotic fluid samples,the senitivity and the specificity of CNVs for detecting the fetuses with abnormal chromo-some karyotype were 99.5%and 100.0%(1/1),and the sensitivity and the spificity of CNVs for detecting the fetuses with normal chromosome karyotype were 99.9%(1961/1964)and 100.0%(5/5).In the cord blood sam-ples,the sensitivity and the specificity of CNVs for detccting the fetuses with abnormal chromosome karyotype were 95.5%and 100.0%(4/4),and the senitivity and the specifieity of CNVs for detecting the fetuses with normal chro-mosome karyotype were 95.7%and 100.0%(4/4).Concl

关 键 词：产前诊断 胎儿异常 高通量测序 全基因组拷贝数变异 染色体核型分析 效果比较 

分 类 号：R714.5[医药卫生—妇产科学]