产前诊断异常两个家系的遗传学分析  

Genetic analysis of two families with abnormal findings upon prenatal diagnosis

作　　者：王文靖[1] 任晨春[1] 杨微微[1] 鞠明艳 张海霞[1] 李德明[1] 张月香[1] Wang Wenjing;Ren Chenchun;Yang Weiwei;Ju Mingyan;Zhang Haixia;Li Deming;Zhang Yuexiang(Tianjin Central Hospital of Obstetrics and Gynecology,Tianjin 300100,China)

机构地区：[1]天津市中心妇产科医院,天津300100

出　　处：《中华医学遗传学杂志》2024年第6期753-757,共5页Chinese Journal of Medical Genetics

基　　金：天津市卫健委科技项目(zc20117);天津市科技计划(21JCQNJC01860);天津市医学重点学科(专科)建设项目(妇产科学TJYXZDXK-043A)。

摘　　要：目的:利用染色体核型分析、基因组拷贝数变异测序(CNV-seq)等技术对两例染色体末端小片段平衡易位携带者的家系进行分析。方法:以2020年4月12日和2021年12月17日在天津市中心妇产科医院接受产前诊断的两个家系作为研究对象。在签署知情同意书后,采集孕妇的羊水及外周血样,常规进行细胞培养、G显带核型分析和高通量测序,检测染色体微缺失/微重复,并进行家系验证。结果:两例孕妇既往均生育过染色体异常儿,其胎儿羊水核型均发现异常,CNV-seq检测显示胎儿染色体存在微缺失/微重复,孕妇本人均携带末端小片段染色体平衡易位。结论:在产前诊断中,对于胎儿核型分析发现的小片段异常,应追溯其亲代来源,并结合基因组测序等技术进行确诊。Objective To carry out genetic analysis on two families with carriers of small terminal translocations using karyotyping analysis and genomic copy number variation sequencing(CNV-seq).Methods Two couples undergoing prenatal diagnosis at the Tianjin Central Hospital of Obstetrics and Gynecology respectively on April 12,2020 and December 17,2021 were selected as the study subjects.With informed consent,amniotic fluid and peripheral blood samples were collected and subjected to conventional karyotyping and CNV-seq analysis for the detection of chromosomal microdeletion/duplications.Results Both couples had given births to children with chromosomal aberrations previously,and both fetuses were found to have abnormal karyotypes.CNV-seq showed that they had harbored microdeletion/duplications,and their mothers had both carried balanced translocations involving terminal fragments of chromosomes.Conclusion For fetuses with small chromosomal segmental abnormalities,their parental origin should be traced,and the diagnosis should be confirmed with combined genetic techniques.

关 键 词：染色体核型 平衡易位 基因组拷贝数变异 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]