梅州地区4635例新生儿听力与耳聋基因联合筛查结果分析

Analysis of 4635 deafness gene screening and hearing screening results in Meizhou City

目的了解梅州地区新生儿耳聋基因的携带情况并探讨新生儿听力和耳聋基因联合筛查在诊断和防治新生儿听力障碍的临床意义。方法收集2018年1月至2018年12月梅州市各医院出生的4635例新生儿听力筛查和耳聋基因检测结果等进行统计和分析。结果4635例新生儿中,未通过听力初筛376例,初筛阳性率8.11%,67例未通过复筛,复筛阳性率1.45%,听力诊断确诊听力障碍患者15例;共检出存在耳聋基因突变225例,突变携带率为4.85%(225/4635),其中GJB2基因突变137例,GJB3杂合突变13例,SLC26A4基因突变59例,线粒体12SrRNA基因突变17例;181例通过听力初筛但耳聋基因突变筛查阳性者听力复筛4例未通过且1例确诊为听力障碍;NICU新生儿听力初筛未通过率(13.65%)显著高于母婴同室新生儿(7.80%)(P<0.001),NICU与母婴同室新生儿耳聋突变基因的携带率无显著差异(P>0.05)。结论对新生儿进行听力和耳聋基因联合筛查有助于尽早发现迟发性或潜在性耳聋患儿,为患儿提供早期干预,值得在临床上推广。

Objective:To understand the carrying status of neonatal deafness genes in Meizhou,and to explore the clinical significance of neonatal hearing and deafness gene combination screening in the diagnosis and prevention of neonatal hearing impairment.Methods:The statistics of the hearing screening and deafness gene detection of 4635 newborns born in hospitals in Meizhou from January 2018 to December 2018 were collected for statistical analysis.Results:Of the 4635 newborns,376 did not pass the primary screening of hearing,the positive rate of primary screening was 8.11%,67 cases did not pass the hearing rescreening,the positive rate of re-screening was 1.45%,and 15 cases of hearing impairment were diagnosed by hearing diagnosis;A total of 225 cases of deafness gene mutations were detected,and the mutation carrying rate was 4.85%(225/4635),including 137 cases of GJB2 gene mutation,13 cases of GJB3 heterozygous mutation,59 cases of SLC26 A4 gene mutation,and 17 cases of mitochondrial 12 SrRNA gene mutation;Of the 181 patients who were screened by hearing but had positive mutations in the deafness,4 were not screened for hearing re-screening,and 1 patient was diagnosed with hearing impairment;The rate of the positive rate of primary screening of NICU newborns(13.65%)was significantly higher than that of maternal newborns(7.80%)(P<0.001),There was no significant difference in the carrying rate of deafness mutations between NICU and maternal newborns.P>0.05).Conclusion:Combined screening of hearing and deafness genes in newborns can help early detection of children with late-onset or latent deafness,and provide early intervention for the child,which is worthy of clinical promotion.