Hearing loss is the most common neurosensory deficit.It results froma variety of heritable and acquired causes and is linked to multiple deleterious effects on a child’s development that can be ameliorated by prompt ...Hearing loss is the most common neurosensory deficit.It results froma variety of heritable and acquired causes and is linked to multiple deleterious effects on a child’s development that can be ameliorated by prompt identification and individualized therapies.Diagnosing hearing loss in newborns is challenging,especially in mild or progressive cases,and its management requires a multidisciplinary team of healthcare providers comprising audiologists,pediatricians,otolaryngologists,and genetic counselors.While physiologic newborn hearing screening has resulted in earlier diagnosis of hearing loss than ever before,a growing body of knowledge supports the concurrent implementation of genetic and cytomegalovirus testing to offset the limitations inherent to a singular screening modality.In this review,we discuss the contemporary role of screening for hearing loss in newborns as well as future directions in its diagnosis and treatment.展开更多
目的通过新生儿听力和耳聋基因联合筛查及听力学诊断结果分析,进一步明确联合筛查的意义。方法以2013年7月至2015年6月间出生普通产科出生活产新生儿为研究对象,出生48小时后进行新生儿听力初筛,同时采集足跟血进行耳聋基因筛查。初筛...目的通过新生儿听力和耳聋基因联合筛查及听力学诊断结果分析,进一步明确联合筛查的意义。方法以2013年7月至2015年6月间出生普通产科出生活产新生儿为研究对象,出生48小时后进行新生儿听力初筛,同时采集足跟血进行耳聋基因筛查。初筛未通过者42天回产院复筛。复筛仍未通过者及耳聋基因筛查未通过者均于3月龄转诊至6家儿童听力障碍诊治机构接受听力诊断性检测和遗传咨询服务。通过对采集的联合筛查及听力诊断数据信息加以统计分析,开展研究。结果 30835例新生儿接受了听力和耳聋基因的联合筛查,联合筛查率占同期活产新生儿的97.6%,联合筛查推广和执行力度较为充分,社会认同度高。其中听力两步筛查未通过率1.51%,。耳聋基因筛查未通过率4.73%。联合筛查显示耳聋基因筛查未通过群体中听力筛查的未通过率(3.8%)高于基因筛查通过者(1.4%),P<0.001,提示听力筛查和耳聋基因筛查未通过者互为联合筛查的高危人群。1457例耳聋基因筛查未通过者中GJB2基因突变者占比最高(55.4%),其235del C位点突变最为常见(72.5%),其次是SLC26A4基因(34.3%)。线粒体12s r RNA基因突变共74例(5.1%)。1457例中共发现纯合和复合杂合突变5例,4例明确听力损失。单杂合突变1452例,检出不同程度听力损失14例。结论实践证明新生儿听力和耳聋基因联合筛查可行性强,临床应用易于推广。新生儿听力和耳聋基因筛查联合开展,相互裨益,是目前防聋筛查的最佳模式。展开更多
基金This project was supported by NIH-NIDCD(Grants No.R01 DC002842,DC012049,and DC017955)(RJHS)NIH-NIDCD(Grant No.5T32DC000040)(RKT).
文摘Hearing loss is the most common neurosensory deficit.It results froma variety of heritable and acquired causes and is linked to multiple deleterious effects on a child’s development that can be ameliorated by prompt identification and individualized therapies.Diagnosing hearing loss in newborns is challenging,especially in mild or progressive cases,and its management requires a multidisciplinary team of healthcare providers comprising audiologists,pediatricians,otolaryngologists,and genetic counselors.While physiologic newborn hearing screening has resulted in earlier diagnosis of hearing loss than ever before,a growing body of knowledge supports the concurrent implementation of genetic and cytomegalovirus testing to offset the limitations inherent to a singular screening modality.In this review,we discuss the contemporary role of screening for hearing loss in newborns as well as future directions in its diagnosis and treatment.
文摘目的通过新生儿听力和耳聋基因联合筛查及听力学诊断结果分析,进一步明确联合筛查的意义。方法以2013年7月至2015年6月间出生普通产科出生活产新生儿为研究对象,出生48小时后进行新生儿听力初筛,同时采集足跟血进行耳聋基因筛查。初筛未通过者42天回产院复筛。复筛仍未通过者及耳聋基因筛查未通过者均于3月龄转诊至6家儿童听力障碍诊治机构接受听力诊断性检测和遗传咨询服务。通过对采集的联合筛查及听力诊断数据信息加以统计分析,开展研究。结果 30835例新生儿接受了听力和耳聋基因的联合筛查,联合筛查率占同期活产新生儿的97.6%,联合筛查推广和执行力度较为充分,社会认同度高。其中听力两步筛查未通过率1.51%,。耳聋基因筛查未通过率4.73%。联合筛查显示耳聋基因筛查未通过群体中听力筛查的未通过率(3.8%)高于基因筛查通过者(1.4%),P<0.001,提示听力筛查和耳聋基因筛查未通过者互为联合筛查的高危人群。1457例耳聋基因筛查未通过者中GJB2基因突变者占比最高(55.4%),其235del C位点突变最为常见(72.5%),其次是SLC26A4基因(34.3%)。线粒体12s r RNA基因突变共74例(5.1%)。1457例中共发现纯合和复合杂合突变5例,4例明确听力损失。单杂合突变1452例,检出不同程度听力损失14例。结论实践证明新生儿听力和耳聋基因联合筛查可行性强,临床应用易于推广。新生儿听力和耳聋基因筛查联合开展,相互裨益,是目前防聋筛查的最佳模式。
