27例15q11.2微缺失胎儿的产前诊断及家系分子遗传学分析  

Prenatal diagnosis and molecular genetic analysis of 27 fetuses with 15q11.2 microdeletion

作　　者：张凯[1] 王小端 王芳[1] 李朔[1] ZHANG Kai;WANG Xiaoduan;WANG Fang;LI Shuo(Genetic Testing Center,Women and Children’s Hospital Affiliated to Qingdao University,Qingdao,Shandong 266034,China)

机构地区：[1]青岛大学附属妇女儿童医院基因检测中心,山东青岛266034

出　　处：《中国优生与遗传杂志》2024年第9期1867-1871,共5页Chinese Journal of Birth Health & Heredity

基　　金：青岛市临床重点专科建设项目;青岛市医药科研指导计划(2018-WJZD093)。

摘　　要：目的探讨27例15q11.2微缺失胎儿的产前诊断及家系分子遗传学分析。方法回顾性分析2021年1月1日至2024年6月1日在青岛大学附属妇女儿童医院基因检测中心行羊水细胞染色体核型及染色体微阵列分析(CMA)检测的5360例孕妇的胎儿产前诊断结果,其中涉及15q11.2区域拷贝数变异的胎儿27例,分析此27例胎儿的产前诊断指征、家系验证情况及妊娠结局进行分析。结果本研究共检出来自24个家系的27例15q11.2区域CNVs胎儿,微缺失发生率0.5%(27/5360),15q11.2微缺失患儿来源主要为父亲,占所有微缺失66.7%(18/27),少部分来源为母亲,占所有微缺失33.3%(9/27),未检测到新发突变的情况。结论15q11.2微缺失胎儿表型存在高度异质性,15q11.2微缺失与先天性心脏病、生长发育障碍、胎儿颈后透明层厚度(NT)增加相关。本次研究中,15q11.2微缺失多来源于父亲,此外多数患儿产前超声无异常情况,因此孕妇在孕期应接受产前诊断和遗传咨询以评估胎儿的风险。Objective Exploring the prenatal diagnosis and molecular genetic analysis of 27 fetuses with 15q11.2 microdeletion.Methods A retrospective analysis was conducted on the prenatal diagnostic results of 5360 pregnant women who underwent amniotic fluid cell chromosome karyotyping and microarray analysis(CMA)at Genetic Testing Center of Women and Children’s Hospital Affiliated to Qingdao University from January 1,2021 to June 1,2024.Among them,27 fetuses with 15q11.2 regional chromosomal variation were involved.The prenatal diagnostic indications,family verification and pregnancy outcome of the delivered fetuses were analyzed.Results This study identified 27 fetuses with CNVs in the 15q11.2 region from 24 families,with a microdeletion rate of 0.5%(27/5360).The main source of microdeletions in the 15q11.2 region was the father,accounting for 66.7%(18/27)of all microdeletions,with a small portion coming from the mother,accounting for 33.3%(9/27)of all microdeletions,and no new mutations were detected.Conclusion The phenotype of fetuses with 15q11.2 microdeletions is highly heterogeneous,and microdeletions in the 15q11.2 region are associated with congenital heart disease and growth and development disorders.In this study,the missing children in the 15q11.2 region are mostly from their fathers.In addition,most children have no abnormal prenatal ultrasound conditions,so pregnant women should receive prenatal diagnosis and genetic counseling during pregnancy to assess the risk of the fetus.

关 键 词：15q11.2区域 产前诊断 遗传分析 重复 缺失 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]