苏州地区新生儿听力与耳聋基因联合筛查结果分析

Analysis of Combined Sereening Results of Hearing and Deafness Genes in Suzhou Area

目的分析苏州地区4284例新生儿听力和耳聋基因联合筛查结果,探讨新生儿听力和耳聋基因联合筛查的临床意义。方法对2020年1月~2022年5月苏州科技城医院出生的4284例新生儿进行听力筛查,同时取足跟血对4个常见耳聋基因的21个突变位点进行测序,统计并分析筛查结果。结果听力初筛通过3945例,通过率92.09%(3945/4284);未通过339例新生儿中有331例进行听力复筛,通过265例,复筛通过率80.06%(265/331);耳聋基因筛查突变阳性85例,阳性率1.98%(85/4284),4类常见耳聋基因GJB2、SLC26A4、GJB3和MT-RNR1突变筛查阳性率分别为0.68%(29/4284)、0.54%(23/4284)、0.30%(13/4284)、0.47%(20/4284);4210例通过听力筛查的新生儿耳聋基因突变筛查阳性83例,阳性率1.97%(83/4210);66例未通过听力筛查新生儿耳聋基因突变筛查阳性2例,阳性率3.03%(2/66);耳聋基因突变筛查阳性新生儿中,最终确诊听力损失2例,确诊率2.35%(2/85);耳聋基因突变筛查阴性新生儿中,最终确诊听力损失11例,确诊率0.26%(11/4199)。结论听力和耳聋基因联合筛查可以有效弥补单纯听力筛查的不足,通过建立和完善听力和耳聋基因联合筛查制度,有效提升新生儿听力缺陷防治水平,扩大听力障碍儿童的预防和干预范围,具有重要的临床和实践意义。

Objective To investigate the clinical significance of combined screening of hearing and deafness genes in 4284 neonates in Suzhou area.Methods A total of 4284 neonates born in Suzhou Science and Technology City Hospital from January 2020 to May 2022 were screened for hearing,and heel blood was collected for sequencing of 21 loci of 4 common deafness genes,the screening results were statistically analyzed.Results Among 4284 neonates,3945 passed the hearing screening,with a passing rate of 92.09%(3945/4284).Among the 339 neonates who failed the initial screening,331 completed the re-screening and 265 passed the re-screening,with a passing rate of 80.06%(265/331).A total of 4284 neonates were screened for deafness gene,and 85 of them were found to be carrying deafness gene mutation,with a carrying rate of 1.98%(85/4284).The carrying rates of GJB2,SLC26A4,GJB3 and MT-RNR1 were 0.68%(29/4284),0.54%(23/4284),0.30%(13/4284)and 0.47%(20/4284).Among 4210 neonates who passed the hearing screening,83 were deafness gene mutation carriers,with a carrying rate of 1.97%(83/4210).Among the 66 neonates who did not pass the hearing screening,there were 2 deafness gene mutation carriers(3.03%,2/66).Among the newborns with deafness gene mutation,hearing loss was confirmed in 2 cases,with a diagnosis rate of 2.35%(2/85).Among the newborns without the deafness gene mutation,11 cases were confirmed to have hearing loss,with a diagnosis rate of 0.26%(11/4199).Conclusion According to the research data,the combined hearing and deafness gene screening can effectively make up for the deficiency of simple hearing screening,it is of great clinical and practical significance to effectively improve the level of prevention and treatment of newborn hearing defects and expand the scope of prevention and intervention for hearing-impaired children by gradually establishing and improving the joint screening system of hearing and deafness genes.