CMA和Trio-WES在胎儿肾脏发育异常产前诊断中的应用  

APPLICATION OF CMA AND TRIO-WES IN PRENATAL DIAGNOSIS OF FETUSES WITH RENAL DYSPLASIA

作　　者：郑丽 李永丽 李华锋 ZHENG Li;LI Yong-li;LI Hua-feng(Linyi Women and Children’s Health Care Hospital,Linyi,China 276000)

机构地区：[1]临沂市妇幼保健院,山东临沂276000

出　　处：《山东医学高等专科学校学报》2025年第1期1-4,共4页Journal of Shandong Medical College

基　　金：临沂市重点研发计划(No.2023YX0146)。

摘　　要：目的探讨产前肾脏发育异常的遗传学病因。方法选取215例产前超声提示胎儿有肾脏发育异常的孕妇为研究对象,所有样本均行CMA检测,其中36例CMA检出阴性进一步行Trio-WES。结果CMA共检出染色体拷贝数异常17例(7.91%),经分析明确致病性变异为13例,其中以肾脏回声增强检出率最高。非孤立性肾脏发育异常染色体畸变的发生率明显高于孤立性肾脏发育异常。Trio-WES检出单个基因变异8例(22.22%),其中4例与肾脏发育异常表型相关,2例额外发现,2例临床意义不明。结论CMA和Trio-WES是明确产前胎儿肾脏发育异常遗传学病因和产前诊断的有效手段。Objective To explore the genetic etiology of prenatal renal dysplasia.Methods Two hundred fifteen fetuses with renal dysplasia detected by prenatal ultrasound were enrolled.All fetuses were performed CMA,36 of them accepted Trio-WES without abnormal CMA.Results CMA detected 17 cases(7.91%)of chromosomal copy number variants(CNVs),13 cases with pathogenic CNVs,among which the detection rate of fetal hyper echogenic kidney was the highest.It was found that the incidence of chromosome aberrations in non-isolated renal dysplasia was significantly higher than that in isolated renal dysplasia.Trio-WES results showed that 8 cases of single gene diseases(22.22%),of which 4 were associated with phenotype of renal dysplasia,2 cases were accidence gene,and 2 cases were variations of uncertain significance.Conclusion CMA and Trio-WES are effective methods to identify the genetic etiology and prenatal diagnosis of fetal renal dysplasia.

关 键 词：染色体微阵列分析 家系全外显子测序 肾脏 

分 类 号：R714[医药卫生—妇产科学]