听力筛查联合遗传性耳聋基因检测诊断新生儿听力障碍的应用价值  

The Application Value of Hearing Screening Combined with Genetic Deafness Gene Test for Diagnosing Hearing Impairment in Newborns

作　　者：吴慧 Wu Hui(Shandong Weikang Medical Testing Co.,Ltd,Zibo Key Laboratory of Precision Genetic Testing Key Technology,Zibo 255000,Shandong Province,China;Shandong Province Genetic Disease Gene Testing Technology Application Demonstration Center,Jinan 250000,Shandong Province,China)

机构地区：[1]山东卫康医学检验有限公司,淄博市精准基因检测关键技术重点实验室,山东淄博255000 [2]山东省遗传性疾病基因检测技术应用示范中心,山东济南250000

出　　处：《中外医药研究》2022年第13期144-146,共3页JOURNAL OF CHINESE AND FOREIGN MEDICINE AND PHARMACY RESEARCH

基　　金：遗传性疾病基因检测技术应用示范中心(编号:Z135050009017)。

摘　　要：目的:分析听力筛查联合遗传性耳聋基因检测在新生儿听力障碍中的诊断价值。方法:选取2018年2月-2019年12月淄博市中心医院产科娩出的新生儿500例作为观察对象,所有新生儿均进行听力筛查及遗传性耳聋基因检测,分析听力筛查结果及遗传性耳聋基因检测结果。结果:500例新生儿在初次听力筛查未通过33例;33例新生儿在复筛中13例未通过。通过随访观察13例新生儿均确诊,听力缺损4例,前庭导水管扩张综合征4例,先天性遗传性耳聋5例。本次遗传性耳聋基因检测发现500例新生儿中有20例新生儿存在突变基因,13例复筛未通过的新生儿均检测出基因突变。结论:通过听力筛查联合遗传性耳聋基因检测的应用,能够提高听力障碍新生儿的检出率。Objective:To analyze the diagnostic value of hearing screening combined with genetic deafness gene test in neonatal hearing disorders.Methods:500 newborns delivered in the Obstetrics Department of Zibo Central Hospital from February 2018 to December 2019 were selected as observation subjects.All newborns underwent hearing screening and genetic deafness gene testing,and the results of hearing screening and genetic deafness gene testing were analyzed.Results:500 newborns failed the initial hearing screening in 33 cases,and 13 newborns failed the repeat screening in 33 cases.All 13 newborns were diagnosed with hearing deficiency in 4 cases,vestibular aqueduct dilatation syndrome in 4 cases,and congenital hereditary deafness in 5 cases through follow-up observation.The genetic test for hereditary deafness found mutated genes in 20 of 500 newborns,and mutations were detected in 13 newborns who failed the re-screening.Conclusion:The application of hearing screening combined with genetic deafness gene testing can improve the detection rate of newborns with hearing impairment.

关 键 词：听力筛查 遗传性耳聋基因检测 新生儿听力障碍 

分 类 号：R72[医药卫生—儿科]