孕期耳聋基因筛查专家共识

Expert Consensus on Genetic Screening for Hearing Loss during Pregnancy

耳聋是最常见的出生缺陷之一,新生儿期的发病率约为1‰-3‰,学龄期儿童耳聋的发病率增加至3‰-4‰。耳聋的病因主要包括遗传因素和环境因素,约60%以上与遗传因素有关,我国最常见的耳聋基因包括GJB2、SLC26A4、MT-RNR1和GJB3等,人群常见耳聋基因变异携带率为5%-6%。根据经典的孟德尔遗传规律,新生儿携带的耳聋基因是由父母的遗传所致。因此,将耳聋预防关口前移,在孕期进行常见耳聋基因筛查,是减少耳聋出生缺陷,保障出生人口质量和人民福祉的重要举措。为规范和推广孕期耳聋基因筛查的临床实践,《孕期耳聋基因筛查专家共识》专家组与河北省卫生健康委员会、中国医疗保健国际交流促进会耳内科学分会以及我国遗传学、检验医学、产科、产前诊断、耳科、生殖医学、儿科及医学伦理等相关领域专家,经过多次认真讨论,跨学科共同制定了《孕期耳聋基因筛查专家共识》。共识包括孕期耳聋基因筛查实践的筛查总则、筛查人群、筛查内容、筛查流程(检测前咨询及知情同意、检测信息采集、标本采集及运转、实验室检测、检测报告的出具发放、结果解读及遗传咨询、妊娠结局随访、标本与资料信息的保存)以及筛查的局限性等关键问题。这一共识将使更多相关的临床工作者和研究人员受益,供临床及实验室应用参考。

Hearing loss, one of the most common birth defects, affects approximately one to three in every 1,000newborns, and three to four in every 1,000 school-aged children. Although hearing loss can be genetic, environmental or a combination of both, genetics accounts for about 60% of the cases. The most common deafness-associated genes in China include the GJB2, SLC26A4, MT-RNR1 and GJB3 genes, with a total carrier frequency of 5%-6% in the population. According to the law of Mendelian Genetics, newborns inherit genes from their parents. Therefore, moving the gate of deafness prevention forward and screening common deafness-associated genes during pregnancy is an important measure to reduce deafness at birth and ensure the quality of newborn population and well-being of the population. In order to standardize and promote the clinical practice of genetic screening for deafness during pregnancy, the Expert Consensus was jointly developed by the Expert Group for the Expert Consensus on Genetic Screening for Hearing Loss during Pregnancy, Health Commission of Hebei Province, Branch of Audiology and Vestibular Medicine in China International Exchange and Promotive Association for Medical and Health Care, in cooperation with experts in genetics, laboratory medicine, obstetrics, prenatal diagnosis, otology, reproductive medicine, pediatrics and medical ethics in China. This expert consensus addresses the general principles of screening, target population, screening process and limitations, which are important for proper clinical and laboratory practices.