基因组医学时代出生缺陷与罕见病的预防控制  

Prevention and control of birth defects and rare diseases in the era of genomic medicine

作　　者：王剑[1,2] 胥雨菲 傅启华 Wang Jian;Xu Yufei;Fu Qihua(Department of Medical Genetics and Molecular Diagnostic Laboratory,Shanghai Children′s Medical Center,Shanghai JiaoTong University School of Medicine,Shanghai 200127,China;Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics,Shanghai 200127,China;Pediatric Translational Medicine Institute,Shanghai JiaoTong University School of Medicine,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心遗传分子诊断科,上海200127 [2]上海市儿科临床分子诊断重点实验室,上海200127 [3]上海交通大学医学院儿科转化医学研究所,上海200127

出　　处：《中华预防医学杂志》2021年第9期1023-1027,共5页Chinese Journal of Preventive Medicine

基　　金：国家自然科学基金(82071660)。

摘　　要：出生缺陷与罕见病已成为重大公共卫生问题,早期防控和阻断是目前最有效的干预措施。近年来随着高通量测序等基因组检测技术的飞速发展,遗传性出生缺陷与罕见病的筛查和诊断水平得到了极大提高。本文从基因组学技术在孕前/胚胎植入前、产前、新生儿期各阶段的应用以及临床转化趋势等方面展开阐述,突显在基因组医学时代下构建早期精准预防控制体系的广阔前景。Birth defects and rare diseases have become major public health problems,and early prevention and control are the most effective interventions.In recent years,with the rapid development of genomic techniques such as high-throughput sequencing,the level of screening and diagnosis of genetic birth defects and rare diseases has been greatly improved.This article reviews the application of genomic technologies in the pre-pregnancy,preimplantation,prenatal and neonatal stages,as well as the trend of clinical transformation,highlighting the broad prospects of constructing an early and precise prevention and control system in the era of genomic medicine.

关 键 词：基因组学 出生缺陷 罕见病 三级防控 测序 

分 类 号：R174[医药卫生—妇幼卫生保健]