新生儿基因组筛查进展与挑战及机遇  

The progress,challenges and opportunities of neonatal genome screening

作　　者：余永国[1] 傅启华[2] 顾学范[1] Yu Yongguo;Fu Qihua;Gu Xuefan(Department of Pediatric Endocrinology and Genetic Metabolism,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Clinical Laboratory,Shanghai Children′s Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院儿内分泌遗传科,上海200092 [2]上海交通大学医学院附属上海儿童医学中心检验科,上海200092

出　　处：《中华预防医学杂志》2022年第9期1190-1195,共6页Chinese Journal of Preventive Medicine

基　　金：国家重点研发计划(2019YFC1005100)。

摘　　要：新生儿筛查是降低出生缺陷三级预防体系中重要的一环, 传统的新生儿筛查以遗传代谢病为主, 筛查病种有一定局限性, 需要基因检测进一步验证和精准分型。在生化代谢物筛查的基础上开展基因筛查已成为今后新生儿筛查的趋势。本文结合国际国内新生儿基因组筛查的现状, 基于致病基因结构的特点, 提出了"SNV Plus"(单核苷酸变异检测+)和"CNV Plus"(拷贝数变异检测+)理念, 期待发展一种能同时检测SNV和CNV的基因结构的新技术, 提高新生儿基因组筛查水平。Neonatal screening is one of the crucial parts of the tertiary prevention strategy to reduce congenital disability.Traditional neonatal screening,mainly focusing on genetic metabolic diseases,has limitations in disease types and requires genetic testing for further validation and accurate typing.Currently,conducting genetic screening based on biochemical metabolite screening has become the trend in neonatal screening.This article synthesizes the current state of neonatal genome screening at home and abroad.Herein,the comprehensive concepts of"SNV Plus"(single nucleotide variation plus)and"CNV Plus"(copy number variation plus)have been proposed to develop a new technology that can detect the gene structure of SNV and CNV simultaneously and improve the level of neonatal genome screening based on characteristics of the pathogenic gene structure.

关 键 词：新生儿筛查 遗传性疾病 基因 二代测序 

分 类 号：R722[医药卫生—儿科]