新生儿听力筛查联合耳聋基因检测的应用

Application Experience of newborn hearing screening combined with deafness predisposing gene screening

目的为了进一步明确新生儿听力筛查联合耳聋基因检测模式在新生儿听力障碍筛查及诊断中的价值。方法对本院出生的2553例正常出生新生儿在进行听力筛查的同时,采集足跟血利用基质辅助激光解吸电离飞行时间质谱检测GJB2、GJB3、SLC26A4、12Sr RNA四个基因20个位点。结果 2553例新生儿中听力初筛未通过219例,确诊听力障碍4例;耳聋基因检测异常140例,其中GJB2杂合突变85例,GJB3杂合突变12例,SLC26A4(PDS)杂合突变38例,线粒体12Sr RNA杂合突变1例;基因纯合突变4例,其中SLC26A4(PDS)1例,线粒体12Sr RNA纯合突变3例。结论新生儿听力筛查联合耳聋基因检测可以及早发现常见遗传性耳聋,弥补单独进行新生儿听力筛查所存在的不足,值得运用推广。

Objective：To investigate the value of the model of newborn hearing screening combined with gene detection in the screening and diagnosis of newborn deafness. Methods：2553 neonates born in the hospital received newborn hearing screening. Heel blood was collected and Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry（MALDI-TOF-MS）was used to detect 20 mutations in 4 deafness predisposing genes of GJB2,GJB3,SLC26A4 and mt DNA 12 Sr RNA. Results：219 of 2553 newborns didn′t pass the first step hearing screening and 4 newborns were diagnosed with hearing loss. 140 newborns carried mutations,among of them 85 newborns were found with GJB2 gene heterozygous mutations,12 newborns were found with GJB3 gene heterozygous mutations,38 newborns were found with SLC26A4（PDS）gene heterozygous mutations,1 newborn was found with 12 Sr RNA gene heterozygous mutation;4 newborns were found with homozygous mutations,one of them carried SLC26A4（PDS）gene homozygous mutation and 3 carried 12 Sr RNA gene homozygous mutations. Conclusion：Newborn hearing screening combined with gene detection could detect early hereditary hearing loss,make up for lack of newborn hearing screening independently and was worthy of application.