新生儿听力和聋病易感基因联合筛查报告

Combined screening report of hearing screening and deafness susceptibility genes screening for newborns

目的研究新生儿听力和聋病易感基因联合筛查的临床意义。方法：选择1440例生后3.5 d的新生儿，检测GJB2、线粒体12S rRNA及SLC26A4等3个基因8个突变位点；同时进行听力筛查．复筛仍不通过者行听力学诊断。结果：GJB2基因235de1C、299．300deIAT、线粒体12S rRNA 1555A〉G、SLC26A4基因ⅣS7-2A〉G、2168A〉G等位点致病突变的携带率分别为1.46％、0．35％、0．42％、0．42％及0．14％，3个基因突变的总体携带率为2．78％；听力筛查及诊断确诊听力损失10例（检出率为6．94‰），其中重度以上听力损失5例（检出率为3．47‰）；32例聋病基因致病突变携带者通过了新生儿听力筛查。结论：听力和聋病易感基因联合筛查能及时发现常规通过听力筛查但具有耳聋高危因素和迟发性聋病遗传因素的新生儿，对早期干预、定期随访、减少聋病发生具有重要指导意义。

Objective To investigate the clinic signification of newborn hearing screening combined withdeafness susceptibility genes screening. Methods 1 440 newborns（3 - 5 days after birth） were screened for 8 hotspot hearing loss associated mutations from GJB2, mtl2S rRNA and SLC26A4. At the same time, all infantsreceived hearing screening. Those who failed to pass two-step test were referred to further audiological assessment.The carrier rate of commonmutations was 1.46% for GJB2 c.235delC, 0.35% for GJB2 c.299-300delAT,0.42% for mtl2S rRNA c.1555A 〉 G, 0.42% for SLC26A4 c.IVS7-2A 〉 G and 0.14% for SLC26A4 c.2168A 〉 G.The total carrier rate was 2.78%. 10 infants were diagnosed as hearing loss in the hearing screening and follow-upaudiology assessment （6.94‰） and 5 were diagnosed as severe hearing loss （3.47‰）. 32 hearing loss associatedmutation carriers passed the hearing screening. Conclusions Genetic screening of newborn hearing screening canbe helpful to find out neonates with late-onset and progressive hearing impairment, which were significant for earlyintervention, regular follow-up and reduction of deafness.