胎儿先天性心脏病产前基因诊断的现状及展望  

Status and prospect of prenatal genetic diagnosis of fetal congenital heart disease

作　　者：李敏[1] 吴怡[1] 程蔚蔚[1] LI Min;WU Yi;CHENG Weiwei(Department of Obstetrics,The International Peace Maternity and Child Health Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai Key Laboratory of Embryo Original Diseases,Institute of Birth Defects and Rare Diseases,Shanghai Jiao Tong University School of Medicine,Shanghai 200030,China)

机构地区：[1]上海交通大学医学院附属国际和平妇幼保健院产科,上海市胚胎源性疾病重点实验室,上海交通大学医学院出生缺陷与罕见病临床研究院,上海200030

出　　处：《上海交通大学学报（医学版）》2022年第10期1498-1503,共6页Journal of Shanghai Jiao tong University:Medical Science

摘　　要：先天性心脏病(congenital heart disease,CHD)指因遗传或环境因素引起心脏或血管结构异常,导致心功能出现障碍的出生缺陷,是近年来我国出生缺陷病种中排名第1位的疾病。CHD发病率呈逐年上升趋势,严重影响着新生儿的健康,尤其是某些复杂性CHD患儿,其出生存活率极低且需要外科手术干预,给患儿家庭带来了沉重的心理和经济负担。CHD的病因复杂,目前国内外相关研究都认为CHD的发生与遗传、环境因素密切相关。相关调查研究显示遗传因素是CHD的主要病因之一,大约每10个CHD患儿中就有1个和基因遗传有关,故产前诊断探索胎儿CHD遗传致病病因,对于评估胎儿预后至关重要。近年来,国内外越来越多的研究聚焦于CHD的遗传病因,但综合性总结产前基因诊断检测技术的综述较少,该文就目前CHD遗传病因相关的产前诊断检测技术的研究进展做一综述。Congenital heart disease(CHD) is diagnosed as the birth defect that causes heart or blood vessel structure abnormality due to genetic or environmental factors,leading to cardiac dysfunction.It is the most common disease among birth defects in China recently,and its incidence is increasing year by year,seriously affecting the health of newborns,especially for some complicated CHD fetuses.The birth survival rate is very low,and surgical interventions are necessary,which bring heavy psychological and economic burden to the families of fetuses,and seriously affect the aristogenesis and aristogenesis in China.The etiology of CHD is complex.Nowadays,it is believed that the occurrence of CHD is closely related to genetic and environmental factors.Some studies showed that genetic factors were the main causes of CHD,and approximately one of ten fetuses with CHD were related to genetic inheritance.Therefore,prenatal diagnosis to investigate the genetic causes of fetal CHD is crucial for evaluating fetal prognosis.In recent years,more and more studies at home and abroad have focused on the genetic etiology of congenital heart disease.Relevant review articles published in China only focused on the progress of certain genetic testing techniques for the detection of chromosomal abnormalities of CHD,and there is still a lack of comprehensive summary of various prenatal genetic testing techniques on the detection of genetic causes of CHD.This article reviews and prospects various genetic testing techniques for CHD.

关 键 词：先天性心脏病 产前诊断 染色体微阵列技术 全外显子测序 

分 类 号：R715.5[医药卫生—妇产科学]