摘要
传统以检测特定生化标志物为技术手段的新生儿筛查(newborn screening,NBS)作为社会健康第三级防控体系,在出生缺陷防控领域发挥了很好的作用,但筛查病种较少,部分病种存在一定程度的假阳性和假阴性。而遗传检测技术的快速发展以及在遗传性疾病诊断中经验的积累,为遗传病NBS提供了新的技术选择。将遗传检测技术引入NBS已成为大势所趋。国内外学者在新生儿基因筛查领域进行了积极的尝试并积累了一些经验和教训。为尽可能最大程度保护基因筛查新生儿及其家庭权益,在总结国内外前期探索性基因筛查经验的基础上,业内专家共同探讨拟定基于高通量测序技术(next generation sequencing,NGS)的中国单基因病NBS(简称新生儿基因筛查)共识,以规范新生儿基因筛查体系,指导NGS在新生儿基因筛查领域的应用。
As a tertiary prevention and control system for social health,newborn screening(NBS),which has traditionally used the detection of specific biochemical markers to screen for genetic and metabolic disorders,has played a great role in the field of prevention and early identification and treatment of birth defects.However,only a few diseases can be screened for with this method,and the frequency of false positive and false negative results can be concerning.Over the past decade,state-of-the-art genetic testing technologies have been developed leading to significant progress in the diagnosis of genetic diseases.The technology underlying these tests can be extended to a variety of application contexts including NBS.And the use of it is likely to increase.Therefore,to protect the newborns undergoing genetic screening and their families,a group of experts was assembled to share and discuss their experiences with exploratory genetic screening within China and abroad.The central aim of the group was to reach consensus and ultimately provide guidance on the application and regulation of next generation sequencing to NBS.
作者
中华预防医学会出生缺陷与控制专业委员会新生儿遗传代谢病筛查学组
中华医学会儿科学分会新生儿学组
赵正言
周文浩
童凡
王剑
肖锐
The Newborn Inherited Metabolic Disease Screening Group,Specialized Committee for Birth Defect Prevention and Control,Chinese Preventive Medicine Association;The Subspecialty Group of Neonatology,the Society of Pediatrics,Chinese Medical Association;Zhao Zhengyan;Zhou Wenhao
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2023年第1期31-36,共6页
Chinese Journal of Applied Clinical Pediatrics
关键词
新生儿筛查
高通量测序技术
单基因病
遗传咨询
Newborn screening
Next generation sequencing
Monogenic disease
Genetic counseling
作者简介
通信作者:赵正言,Email:zhaozy@zju.edu.cn;通信作者:周文浩,Email:zhouwenhao@fudan.edu.cn
