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ENGLISH ABSTRACT
针对生育人群的携带者筛查实验室和临床实践专家共识
中国妇幼保健协会生育保健分会
作者及单位信息
·
DOI： 10.3760/cma.j.cn101441-20230829-00094
Expert consensus on laboratory and clinical practice of carrier screening for reproductive populations
Reproductive Health Branch of the Chinese Maternal and Child Health Association
Huang Hefeng
Xu Chenming
Authors Info & Affiliations
Reproductive Health Branch of the Chinese Maternal and Child Health Association
Huang Hefeng
Institute of Reproduction and Development, Fudan University, Shanghai 200001, China
Xu Chenming
Genetics Center of Obstetrics and Gynecology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200001, China
·
DOI： 10.3760/cma.j.cn101441-20230829-00094
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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。

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
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.

Carrier screening;High-throughput sequencing technology;Disease selection;Screening strategies;Pre-test genetic consultation;Post-test genetic consultation
Huang Hefeng, Institute of Reproduction and Development, Fudan University, Shanghai 200001, China, Email: nc.defudabe.nadufgfehgnauh, Tel: +86-21-54237800
Xu Chenming, Genetics Center of Obstetrics and Gynecology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200001, China, Email: mocdef.3ab616002ux_gnimnehc, Tel: +86-21-33189900*8412
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引用本文

中国妇幼保健协会生育保健分会. 针对生育人群的携带者筛查实验室和临床实践专家共识[J]. 中华生殖与避孕杂志,2024,44(02)：109-115.

DOI:10.3760/cma.j.cn101441-20230829-00094

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出生缺陷在全球范围内都是影响人口健康水平的公共卫生问题，也是胎儿、婴幼儿死亡和先天残疾的主要原因 ［ 1 ］ 。单基因遗传病是导致出生缺陷的重要原因之一。由于多数常染色体隐性与X连锁遗传病在胎儿期没有明显的异常表现，父母通常也没有相关疾病的家族史，直至生育隐性单基因遗传病患儿之后才会发现夫妻的生育高风险状态（即同时是某个常染色体隐性遗传病的携带者或女方为某个X连锁遗传病的携带者）。据估计，有2%~4%的无家族史的育龄夫妻属于生育某种隐性遗传病的高风险夫妇 ［ 2 ］ 。如果在备孕期或孕早期通过检测夫妇双方携带情况，进而对其进行遗传咨询及生育选择指导，就有可能降低此类疾病的生育风险，这一过程即为携带者筛查检测。
携带者筛查最早可以追溯到20世纪70年代，早期的携带者筛查主要针对特定疾病高危人群的单一疾病的筛查，并取得了很好的防控效果。随着高通量测序技术的快速发展，携带者筛查也逐步实现了从单一疾病向多种疾病，由特定高危种族人群到泛种族普通人群的转变。自2013年以来，美国医学遗传学与基因组学学会（American College of Medical Genetics and Genomics，ACMG）、美国妇产科医师学会（American College of Obstetricians and Gynecologists，ACOG）等国际专业协会连续发布了多版指南或者声明，指导和推进多种疾病携带者筛查的临床应用 ［ 3 , 4 , 5 , 6 , 7 , 8 ］ 。截至目前，虽然已有不少扩展性携带者筛查在中国人群的应用研究 ［ 9 , 10 , 11 , 12 , 13 ］ ，但尚缺乏针对中国人群携带者筛查的适用人群、疾病选择、实施策略、实验室检测和遗传咨询等核心内容与关键问题的指南或者共识。为此，中国妇幼保健协会生育保健分会组织国内临床专家、辅助生殖专家、遗传学专家及实验室技术专家基于中国人群携带者筛查的临床实践研究成果，结合我国的实际情况，就开展携带者筛查的实验室检测和临床实施过程中的核心内容与关键问题形成共识意见，以促进携带者筛查技术的良性发展和规范应用。
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备注信息
A

黄荷凤负责论文构思、撰写及修改；徐晨明负责论文构思和撰写；陈松长、杨昀负责论文撰写及修改；共识编写专家组其他成员负责论文的修改

B
黄荷凤，复旦大学生殖发育研究院，上海 200001，Email： nc.defudabe.nadufgfehgnauh，电话：+86-21-54237800
C
徐晨明，复旦大学附属妇产科医院妇产科遗传中心，上海 200001，Email： mocdef.3ab616002ux_gnimnehc，电话：+86-21-33189900*8412
D
中国妇幼保健协会生育保健分会. 针对生育人群的携带者筛查实验室和临床实践专家共识[J]. 中华生殖与避孕杂志, 2024, 44(2): 109-115. DOI: 10.3760/cma.j.cn101441-20230829-00094.
E
所有作者均声明不存在利益冲突
F
国家重点研发计划 (2023YFC2705600，2023YFC2705601，2023YFC2705603，2021YFC2701002，2022YFC2703702)
国家自然科学基金 (81971344，82171677，82192864)
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)
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