先天性心脏病的遗传学病因及产前诊断方法的研究进展  

Research progress on genetic etiology and prenatal diagnosis method of congenital heart disease

作　　者：韩廷雪 黎冬梅 HAN Tingxue;LI Dongmei(Department of Medical Genetics,Kunming University of Science and Technology Affiliated Hospital/The First People’s Hospital of Yunnan Province/National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention and Control in Western China,Kunming,Yunnan 650100,China;School of Medicine,Kunming University of Science and Technology,Kunming,Yunnan 650000,China)

机构地区：[1]昆明理工大学附属医院/云南省第一人民医院医学遗传科/国家卫生健康委西部优生与出生缺陷防控重点实验室,昆明650100 [2]昆明理工大学医学院,昆明650000

出　　处：《重庆医学》2024年第20期3161-3167,共7页Chongqing Medical Journal

基　　金：云南省科技厅昆医联合专项(202001AY070001-122);昆明市科技局科技计划项目(2023-1-NS-026);2023年度昆明理工大学医院院研究生科研创新基金项目(2023-4-24)。

摘　　要：先天性心脏病(CHD)是我国最常见的出生缺陷,目前CHD的发病原因尚不明确,其产前诊断方法多为单一超声诊断,临床价值有限。规范、系统的产前诊断方法对CHD防控具有重要意义,该文概述了CHD的病因,从影像学、细胞遗传学、血清学、分子生物学层面阐述了CHD的产前诊断方法,同时简要介绍了前沿检测技术及宫内治疗相关内容,探讨目前存在的问题,为临床胎儿的产前诊断提供参考。Congenital heart disease(CHD)is the most common birth defect in China.At present,the pathogenesis of CHD is still unclear,most of its prenatal diagnostic methods are single ultrasound diagnosis with limited clinical value.Standardized and systematic prenatal diagnostic methods are of great significance to the prevention and control of CHD.This paper outlines the etiology of CHD,elaborates the prenatal diagnostic methods of CHD from the aspects of imaging,cytogenetics,serology and molecular biology,at the same time briefly introduces the cutting-edge detection technologies and intrauterine treatment related contents and explores the current existing problems to provide reference for clinical prenatal diagnosis of fetus.

关 键 词：胎儿 先天性心脏病 产前诊断 遗传学技术 综述 

分 类 号：R715.5[医药卫生—妇产科学]