天津市新生儿听力和基因联合筛查与诊治工作

Tianjin neonatal hearing and the combination of genetic and make a diagnosis and give treatment work situation

目的:总结分析近10年来天津市开展新生儿听力和基因联合筛查与诊治工作成果。方法:天津市出生的新生儿,在知情同意前提下,接受听力和耳聋基因筛查。筛查位点为GJB2、GJB3、SLC26A4及线粒体基因的20个突变热点。结果:接受新生儿听力筛查率为99%以上;听力障碍儿童检出率2.10‰。听力基因筛查率达80%;致病突变阳性率5.55%。对确诊听力障碍患儿6个月时均实施了有效的干预;85%聋儿经过早期语言康复已进入普通幼儿园和普通小学继续学习。结论:新生儿听力筛查与耳聋基因筛查相结合,两者相互补充对照,是目前最为有效的筛查策略,为降低出生缺陷的三级预防措施奠定了基础。

Objective：To sum up and analyze the results of the concurrent genetic and hearing screening in the newborn in Tianjin in the last 10 years. Methods：The neonates born in Tianjin,under the promise of the informed consent,received the hearing and deafness-associated genetic screening,including 20 hot spot mutation sites of 4 deafness-related genes（GJB2,SLC26A4, mitochondrial DNA12S rRNA and GJB3）. Results：99% of the neonates born in Tianjin received the hearing screening and the result is that 2.10‰ of infants have hearing impairment. 80% of the neonates screened for deafness-associated genetic mutations with the positive rate above to 5.55%. Effective intervention was carried out for the babies with the hearing impairment when they were only 6 months old. After the early language rehabilitation,85% of the children with the hearing loss had entered into the ordinary school to learn the same as the healthy children. Conclusion：The combination of the newborn hearing and gene screening for deafness is the most effective screening strategy to decrease the incidence of hereditary hearing loss. The union screening could lay a foundation for the development of the three grade of the preventive measures reducing birth defects.