针对生育人群的携带者筛查实验室和临床实践专家共识
Expert consensus on laboratory and clinical practice of carrier screening for reproductive populations
中国妇幼保健协会生育保健分会 黄荷凤 1徐晨明2
作者信息
- 1. 复旦大学生殖发育研究院,上海 200001
- 2. 复旦大学附属妇产科医院妇产科遗传中心,上海 200001
- 折叠
摘要
作为一项孕前/孕早期筛查技术,携带者筛查已经由最初仅针对特定人群、特定疾病发展为现如今的针对一般人群、多种疾病的筛查,在防控常染色体隐性或X连锁遗传病引起的出生缺陷方面表现出了显著的临床效用,增加了受检夫妇的生育自主权.为规范携带者筛查的实验室检测和临床实施,经中国妇幼保健协会生育保健分会专家讨论,结合我国实际情况,制定本专家共识,供临床应用参考.
Abstract
As a pre-pregnancy/early pregnancy screening technology,carrier screening has developed from initially targeting specific populations and diseases to targeting the general population and multiple diseases now.It has shown significant clinical efficacy in preventing and controlling birth defects caused by autosomal recessive or X-linked genetic diseases,and has increased the reproductive autonomy of couples undergoing testing.To standardize laboratory testing and clinical implementation of carrier screening,this expert consensus was developed by experts from the Reproductive Health Branch of the Chinese Maternal and Child Health Association,taking into account the actual situation in China,and is provided for clinical reference.
关键词
携带者筛查/高通量测序技术/疾病选择/筛查策略/检测前遗传咨询/检测后遗传咨询Key words
Carrier screening/High-throughput sequencing technology/Disease selection/Screening strategies/Pre-test genetic consultation/Post-test genetic consultation引用本文复制引用
基金项目
国家重点研发计划(2023YFC2705600)
国家重点研发计划(2023YFC2705601)
国家重点研发计划(2023YFC2705603)
国家重点研发计划(2021YFC2701002)
国家重点研发计划(2022YFC2703702)
国家自然科学基金(81971344)
国家自然科学基金(82171677)
国家自然科学基金(82192864)
上海市自然科学基金(23ZR1408000)
市级医院新兴前沿技术联合攻关项目-上海申康医院发展中心(SHDC12023120)
上海市卫健委项目(202140110)
出版年
2024
NETL
NSTL
万方数据