遗传性耳聋孕前及产前预防临床实践专家共识  

Expert consensus on clinical practice for pre-pregnancy and prenatal prevention of hereditary hearing loss

作　　者：中华医学会医学遗传学分会 中国耳聋基因筛查与诊断临床多中心研究协作组 袁永一[2] 戴朴[2] 黄莎莎[3] 韩明昱[3] 闫丽盈[4] 卢彦平[5] 卢宇 孔祥东[6] 朱小辉[7] Branch of Medical Genetics of Chinese Medical Association;Chinese Multi-Center Clinical Research Collaboration Group on Genetic Screening and Diagnosis of Deafness;Yuan Yongyi;Dai Pu(不详;Senior Department of Otolaryngology Head and Neck Surgery,the Sixth Medical Center of Chinese PLA General Hospital/State Key Laboratory of Hearing and Balance Science/National Clinical Research Center for Otolaryngologic Diseases/Key Laboratory of Hearing Science,Ministry of Education/Beijing Key Laboratory of Hearing Impairment Prevention and Treatment,Beijing 100048,China)

机构地区：[1]不详 [2]解放军总医院第六医学中心耳鼻咽喉头颈外科医学部,听觉与平衡觉全国重点实验室,国家耳鼻咽喉疾病临床医学研究中心,聋病教育部重点实验室,聋病防治北京市重点实验室,北京100048 [3]解放军总医院耳鼻咽喉头颈外科医学部 [4]北京大学第三医院妇产科生殖医学中心 [5]解放军总医院妇产科医学部 [6]郑州大学第一附属医院遗传与产前诊断中心 [7]北京大学第三医院生殖医学中心

出　　处：《中华医学杂志》2025年第6期428-439,共12页National Medical Journal of China

基　　金：国家重点研发计划(2022YFC2703602);国家自然科学基金(82271177,82171185);北京市自然科学基金(7242137)。

摘　　要：遗传因素是导致先天性耳聋的最主要原因,遗传性耳聋的预防是聋病防控的主要突破口。分子诊断技术的进步有效提高了遗传性耳聋的确诊率,基于人群的耳聋分子流行病学研究成果为开展携带者筛查、发现生育聋儿的高风险家庭提供了理论支撑,这是开展遗传性耳聋规模化预防的基础。鉴于目前遗传性耳聋的预防在临床实践中仍缺少统一的规范性文件,本共识编写组组织多学科专家,参考国内外最新循证医学证据,就遗传性耳聋孕前/产前预防的适用人群、策略和技术、预防时期的选择、临床流程等内容达成共识,以期为遗传性耳聋预防工作的临床规范化开展提供参考,为预防技术的研发提供思路。Genetic factors are the primary causes of congenital hearing loss,and prevention of hereditary hearing loss is the main breakthrough point in the control and prevention of deafness.The progress in molecular diagnostic technology has effectively improved the diagnostic rate of hereditary hearing loss.Moreover,the findings of population-based molecular epidemiological studies on hearing loss provide theoretical support for the implementation of carrier screening,which aims to identify high-risk families that may give birth to deaf children,and thus lay the foundation for the large-scale prevention of hereditary hearing loss.In view of the lack of unified normative documents on the prevention of hereditary hearing loss in clinical application,a multidisciplinary team of experts consulted the latest evidence-based medicine at home and abroad,and has reached a consensus on the applicable population,strategy,technology,prevention period selection,and clinical process for the pre-pregnancy/prenatal prevention of hereditary hearing loss.The goal is to provide a reference for the clinical standardization implementation of hereditary hearing loss prevention and insight for the research and development of prevention technologies.

关 键 词：聋 预防 基因诊断 携带者筛查 单基因病胚胎植入前检测 产前诊断 无创产前检测 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]