摘要
三级预防策略是预防遗传性耳聋的基本方式,一级预防是首要的预防措施,主要内容有广泛人群耳聋基因筛查和高危人群的基因诊断,具体策略包括为携带致聋突变的夫妇进行孕前指导、为聋人夫妇提供生育指导、对环境致聋因素易感者提供用药指导和生活指导,并通过胚胎植入前遗传学诊断预防患耳聋孩子的出生。二级预防主要是对孕期女性进行耳聋基因筛查和产前诊断,及早发现并进行干预。三级预防是指对患耳聋孩子的早发现、早诊断和早干预,在早发现的基础上通过医学干预措施,实现患耳聋孩子言语、智力和认知功能的发展。本文就遗传性耳聋的三级预防策略的研究进展做一综述。
The tertiary prevention strategy is the basic way to prevent and treat hereditary deafness, and the primary prevention is the principal preventive measure. The main contents include deafness gene screening among broad population and gene diagnosis among high-risk group, and specific strategies contain pre-pregnancy guidance for couples with deaf gene mutations, fertility guidance for deaf couples, medication and life guidance for people who are susceptible to environmental deafness factors, and effectively preventing the birth of deaf children through preimplantation genetic diagnosis. Secondary prevention mainly includes genetic screening of maternal deafness during pregnancy and prenatal diagnosis so as to detect early and carry out deaf disease intervention. Tertiary prevention refers to early detection, early diagnosis and early intervention for deaf children. On the basis of early detection, gene therapy, surgery, drug prevention, and hearing and speech rehabilitation are used to achieve the development of speech, intelligence, and cognitive functions for deaf children. This article reviews the progress in tertiary prevention strategies for hereditary hearing loss.
作者
令娜娜
郭玉芬
徐百成
LING Na-na;GUO Yu-fen;XU Bai-cheng(The Second Hospital of Lanzhou University,Lanzhou,Gansu 730000,China)
出处
《实用预防医学》
CAS
2021年第8期1021-1024,F0003,共5页
Practical Preventive Medicine
基金
国家自然科学基金项目(31960132)
甘肃省卫生行业计划项目(GSWSKY2018-40)。
关键词
遗传性耳聋
三级预防
基因筛查
产前诊断
听力筛查
hereditary deafness
tertiary prevention
genetic screening
prenatal diagnosis
hearing screening
