49例中枢神经系统结构异常胎儿的全外显子检测结果分析  

Analysis on whole exome sequencing results in 49 fetuses with central nervous system structural abnormalities

作　　者：王智慧 李苑艳 徐晨阳 沈旭娜 陈杨萍 黄崇权 WANG Zhihui;LI Yuanyan;XU Chenyang;SHEN Xuna;CHEN Yangping;HUANG Chongquan(Department of Obstetrics and Gynecology,Wenzhou Central Hospital,Wenzhou 325000,China;不详)

机构地区：[1]温州市中心医院妇产科,325000 [2]温州市中心医院检验科,325000 [3]温州市中心医院产科,325000 [4]温州市中心医院医学影像科,325000

出　　处：《浙江医学》2025年第8期861-865,共5页Zhejiang Medical Journal

基　　金：温州市基础性公益科研项目(Y2023010)。

摘　　要：目的通过分析49例中枢神经系统结构异常胎儿的全外显子检测结果,探讨其遗传学病因。方法回顾性选取2021年6月至2023年12月在温州市中心医院超声及MRI检查诊断为中枢神经系统结构异常、行羊水或脐血染色体核型分析及染色体微阵列分析阴性的胎儿49例,在获得知情同意后,对其进行家系全外显子组测序(Trio-wes),根据检测结果,对照现有疾病基因数据库和文献报道,识别出潜在的致病基因变异。结果Trio-wes共检出与临床表型相关的单核苷酸变异(SNV)9例,其他可报告的SNV 4例,总检出率26.5%(13/49,26.5%),共涉及15个基因18个变异位点。基因型与影像学表型进行对照分析,发现特定基因变异与胎儿中枢神经系统结构异常的影像学表型具有一定相关性。结论全外显子检测在产前诊断胎儿中枢神经系统结构异常中具有重要的临床价值,能够为产前诊断提供更加全面的遗传信息,对产前管理、遗传咨询及再生育指导具有重要意义。Objective To explore the genetic etiology by analyzing the whole exome sequencing results of 49 fetuses with central nervous system structural abnormalities.Methods A total of 49 fetuses diagnosed with central nervous system structural abnormalities by ultrasound and MRI examinations in Wenzhou Central Hospital from June 2021 to December 2023,and with negative results of amniotic fluid or cord blood chromosome karyotype analysis and chromosomal microarray analysis were retrospectively selected.After obtaining informed consent,the whole exome sequencing of the family(Triowes)was performed on them.The detection results were analyzed by referring to the existing disease gene databases and literature reports to identify the potential pathogenic gene variants were identified.Results Trio-wes detected a total of nine single nucleotide variant(SNV)related to clinical phenotypes and four other reportable SNV.The total detection rate was 26.5%(13/49,26.5%),involving 18 variant sites of 15 genes.By comparing and analyzing the genotypes with the imaging phenotypes,it was found that specific gene variants had a certain correlation with the imaging phenotypes of fetal central nervous system structural abnormalities.Conclusion Whole exome sequencing has important clinical value in the prenatal diagnosis of fetal central nervous system structural abnormalities,which can provide more comprehensive genetic information for prenatal diagnosis and is of great significance for prenatal management,genetic counseling and guidance on subsequent reproduction.

关 键 词：全外显子组测序 神经系统 异常 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]