听力筛查联合耳聋基因检测在新生儿耳聋管理中的应用

Application of hearing screening combined with deafness gene detection in neonatal deafness management

目的探讨听力筛查联合耳聋基因检测结合家系验证在新生儿耳聋管理中的应用价值。方法追踪2019年1月—2021年5月在徐州市中心医院分娩的13746例新生儿,分为单一听力筛查组(12204例)和联合筛查组(1542例,听力筛查联合耳聋基因检测),耳聋基因检测阳性者进行父母耳聋基因验证,随访新生儿听力结局,并在耳聋患儿的母亲再次妊娠时进行产前诊断。结果联合筛查组的新生儿听力筛查未通过率高于单一听力筛查组[3.24%(50/1542)vs.1.79%(218/12204)],对耳聋高危儿的检出率也高于单一听力筛查组[6.61%(102/1542)vs.1.79%(218/12204)],差异均有统计学意义(均P<0.05)。联合筛查组新生儿耳聋基因总阳性率为6.10%(94/1542),阳性基因由高到低依次是GJB2(2.72%,42/1542)、SLC26A4(1.88%,29/1542)、线粒体12S rRNA(0.97%,15/1542)、GJB3(0.52%,8/1542)。父母耳聋基因验证发现主要突变位点依次分别是c.235delC、IVS7-2A>G、m.1555A>G、c.538C>T。听力筛查未通过的新生儿随访,联合筛查组拒绝进一步检查的比例低于单一听力筛查组[4.00%vs.14.68%],差异有统计学意义(P<0.05)。联合筛查组2例听力下降患儿均佩戴助听器,单一听力筛查组1例患儿1岁时听力下降,耳聋基因是SLC26A4 IVS7-2A>G/GJB2 c.235delC,1岁半接受人工耳蜗治疗,母亲再次妊娠接受产前诊断,随访新生儿听力正常。结论听力筛查联合耳聋基因检测为耳聋高危儿的临床管理和保健提供了一定依据,提高了家庭和医生对其的重视,父母基因验证和产前诊断可能使耳聋家庭获益。

Objective To explore the application value of hearing screening combined with deafness gene detection and pedigree verification in neonatal deafness management.Methods A total of 13746 newborns delivered in Xuzhou Central Hospital from January 2019 to May 2021 were enrolled and divided into single hearing screening group(12204 cases)and combined screening group(1542 cases,hearing screening combined with deafness gene detection).The related genes of parents with neonatal positive deafness gene were verified.The hearing outcomes of newborns were followed up and prenatal diagnosis was provided for the mothers with bearing deaf child history in the secondary pregnancy.Results The failure rate of neonatal hearing screening in combined screening group was higher than that in single hearing screening group[3.24%(50/1542)vs.1.79%(218/12204)],the detection rate of newborns at high risk of hearing loss was also higher than that in single hearing screening group[6.61%(102/1542)vs.1.79%(218/12204)],there were statistically significant differences(P<0.05).The total positive rate of neonatal deafness gene in combined screening group was 6.09%(94/1542),the positive rates of deafness genes from high to low were GJB2(2.72%,42/1542),SLC26A4(1.88%,29/1542),mitochondrial 12S rRNA(0.97%,15/1542),GJB3(0.52%,8/1542).The main mutation loci in verification of deafness genes of parents were c.235delC,IVS7-2A>G,m.1555A>G,and c.538C>T,respectively.During follow-up,the proportion of newborns who refused to accept further detection in combined screening group was lower than that in single hearing screening group(4.00%vs.14.68%),there was statistically significant difference(P<0.05).In combined screening group,2 cases of hearing loss were both fitted with hearing aids,while in single hearing screening group,1 case with hearing loss at 1 year old with SLC26A4 IVS7-2A>G/GJB2 c.235delC received artificial cochlear implantation at one and a half years old,and his mother received prenatal diagnosis for deafness gene site verification in the secondary pregnancy,hearing of the neonate was normal during follow-up.Conclusion Hearing screening combined with deafness gene detection provides a certain basis for clinical management and health care of high-risk newborns after birth and improve the attention of families and clinicians.Parental genetic verification and prenatal diagnosis may benefit the families with deafness.