胎儿侧脑室增宽的遗传学研究进展  

Genetic advances in the fetal ventriculomegaly

作　　者：赵晨玥 张莉雪 蒋劲嵩 郭敏 高景波 郭荣[2] 曹桂芝 薛慧琴 ZHAO Chenyue;ZHANG Lixue;JIANG Jinsong;GUO Min;GAO Jingbo;GUO Rong;CAO Guizhi;XUE Huiqin(Pediatrics Discipline,Graduate School of Shanxi Medical University,Taiyuan,Shanxi 030001,China;Cytogenetic Laboratory,Shanxi Medical University Affiliated Children's Hospital)

机构地区：[1]山西医科大学儿科医学系,山西太原030001 [2]山西医科大学附属儿童医院细胞遗传室

出　　处：《中国儿童保健杂志》2024年第12期1322-1327,共6页Chinese Journal of Child Health Care

基　　金：国家人口与生殖健康科学数据中心工程项目(No2005DKA32408);山西省回国留学人员科研教研资助项目(2023-180);山西省“2021年度“四个一批”科技兴医创新计划项目”医学遗传学研究委级重点实验室建设项目(2021SYS24);山西省儿童医院博士基金项目(201948);山西省卫生健康委员会资助项目(2023016)。

摘　　要：侧脑室增宽(VM)是一种产前检查中常见的胎儿超声异常表现,发生率约为1%,与儿童智力和精神运动的发展密切相关,通过产前超声或MRI检查可以评估侧脑室的大小和形态。引起侧脑室增宽的原因有中枢神经系统发育畸形、染色体畸变、基因突变、遗传综合征和其它一些未知疾因等,其中遗传学病因占有很大比重,并且已经成为了许多家庭关注的问题。本综述将回顾和总结胎儿VM的遗传学研究进展,包括遗传学病因及其相关的分子机制,以及遗传病因的诊断与鉴定。Ventriculomegaly(VM)is a common fetal ultrasound abnormality in prenatal screening,with an incidence of about 1%,and is closely related to the intellectual and psychomotor development of children,which can be evaluated by prenatal ultrasound or MRI that can assess its size and morphology.VM can be caused by central nervous system malformations,chromosomal aberrations,gene mutations,genetic syndromes and potential fetal anomalies,with genetics etiology accounting for a large portion of the cases and has become a concern for many families.This review combs genetic advances in fetal VM,including the genetics etiology and its associated molecular mechanisms,as well as the diagnosis and identification of genetic etiologies.

关 键 词：胎儿侧脑室增宽 遗传学病因 染色体畸变 单基因遗传病 

分 类 号：R714.5[医药卫生—妇产科学]