678例新生儿听力和聋病易感基因联合筛查结果分析

A Study of Universal Newborn Hearing Screening with Hearing and Deafness Predisposing Gene Screening in 678 Newborns

目的探讨听力和聋病易感基因联合筛查的临床意义。方法选择出生后3~5天的678名新生儿,采取足跟末梢血提取DNA,并采用基因测序检测所有血样的线粒体12SrRNAm.1555A〉G、GJB2基因c.235delC、SLC26A4基因c.919-2A〉G三个基因突变位点;同时对所有新生儿进行听力筛查,初筛采用筛查型耳声发射（OAE）,复筛采用筛查型OAE结合自动判别听性脑干反应（AABR）。结果678例中听力初筛未通过21例,复筛未通过13例;8例在3月龄时进行了听力学诊断,最终确诊4例新生儿听力损失。25例（3.69%,25/678）存在线粒体12SrRNA、GJB2基因和SLC26A4基因的变异,其中,1例线粒体12SrRNAm.1555A〉G阳性儿通过听力筛查;2例GJB2基因c.235delC纯合突变、1例GJB2基因c.235delC和c.299delAT复杂突变,听力筛查均未通过;13例GJB2基因c.235delC杂合携带者和8例SLC26A4基因c.919-2A〉G杂合突变者中,17例通过听力筛查。结论新生儿听力和聋病易感基因联合筛查,可发现部分听力筛查不能发现的高危耳聋新生儿和迟发性耳聋新生儿。

Objective To investigate the clinic significance of universal newborn screening with deafness predisposing genes in newborns.Methods 687 newborn babies born in the Health Center for Women and Children in Wuhan were taken blood sample at heel and received for deafness predisposing genes screening.The most common deafness genes including mt12SrRNAm.1555AG,GJB2 c.235delC,SLC26A4 c.919-2AG were detected by gene sequencing.At the same time,all infants received hearing screening.Otoacoustic emission（OAE） was used for the first step hearing screening and OAE combined with auto-auditory brainstem response（AABR） detection were used for the second step screening.Results 21 newborn of all were showed ＂refer＂ in the first step hearing screening among whom 13 newborn were still showed ＂refer＂ in the second hearing screening.All the gene screening found that 25 newborn babies of the 678 harbored the changes in the three genes,and the abnormal rate was 3.69%.Of those,one was the mtDNA12SrRNA m.A1555G,two were GJB2 c.235delC and one was 235delC299delAT,whose failed the hearing screening.Thirteen were GJB2 c.235delC carries and eight were SLC26A4 c.919-2AG carries.In the 21 carries,17 babies showed ＂pass＂ in hearing screening.Conclusion The strategy adding the newborn gene screening into the hearing screening can be helpful to find out the late-onset or the high risk subjects for hearing loss,which were significant for early diagnosis of deafness.