先天性心脏病的遗传学诊断规范

Specification for genetic diagnosis of congenital heart disease

先天性心脏病(CHD)是先天性畸形的主要类型之一,也是新生儿及儿童期的主要死亡原因之一。传统的诊断方法以临床表现及影像学诊断为主。随着遗传学技术的迅速发展,通过遗传检测鉴定其遗传学病因,对于CHD的早诊早治和预防具有重要的意义。然而,目前国内外尚缺乏CHD遗传诊断的规范和标准。本规范通过组织相关专业的专家,根据国内外对先心病相关的遗传学研究的进展,结合我国先心病诊治及遗传诊断的现状,制定了CHD的遗传学检测、基因诊断、遗传咨询的流程和规范,以供相关专科的医师参考,为CHD的综合诊断、早期治疗以及预防建立规范。

Congenital heart disease(CHD)is one of the most common congenital malformations and a major cause of mortality among neonates and children.Conventional methods for the diagnosis of CHD have relied on clinical features and imaging findings.With the rapid development of genetic techniques,to identify the cause of CHD through genetic diagnosis has gained great significance for the early diagnosis,treatment,and prevention of CHD.However,currently there is still a lack of norms and standards for the genetic diagnosis of CHD.In view of this,experts from the relevant fields have formulated the present norm by integrating the latest research advances on CHD-related genes with the current clinical practice on the diagnosis and treatment of CHD and status quo of genetic diagnosis in China.The norm has been recommended by the Cardiology Section of the Chinese Medical Education Association,the Medical Genetics Branch and the Heart Group of Pediatric Surgery Branch of the Chinese Medical Association,which has formulated the procedures and norms of genetic testing,prenatal diagnosis,and genetic counseling for CHD,with an aim to provide reference for clinicians as the standards for the integrated diagnosis,early treatment,and prevention of CHD.