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Zhonghua yi xue za zhi · 2025

[Interpretation of the"Expert consensus on clinical practice for pre-pregnancy and prenatal prevention of hereditary hearing loss"].

Аннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Xu H E, Sun S P, Yuan Y Y

Аннотация

Hereditary hearing loss is one of the most common birth defects, and its prevention and control hold significant value for China's three-tier birth defect prevention system. The "Expert consensus on clinical practice for pre-pregnancy and prenatal prevention of hereditary hearing loss", published in 2025, provides crucial guidance for the standardized clinical implementation of hereditary deafness prevention. This article interprets the consensus across six dimensions: disease characteristics of hereditary deafness, key target populations and screening strategies, advancements in molecular diagnostic techniques, construction of the three-tier prevention system, clinical implementation protocols and quality management, and ethical considerations. The consensus defines the criteria for identifying high-risk families, recommends technical approaches such as preconception carrier screening, preimplantation genetic testing, and prenatal diagnosis, and emphasizes ethical principles guiding technology selection. The mentioned three-tier deafness prevention system covers the preconception, prenatal, and neonatal stages, aiming to achieve whole-life-cycle management. Furthermore, the consensus proposes future directions for technological development and recommendations for building a multidisciplinary social support system. This article aims to provide practical references for clinicians and genetic counselors through in-depth interpretation, thereby contributing to reducing the disease burden of hereditary deafness.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты