30835例新生儿听力和基因联合筛查实践研究

Combined Hearing and Genetic Screening in 30835 Neonates

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。

Objective To report data of combined newborn hearing and genetic screening in Beijing and its potential values. Methods Newborns born between July 2013 and June 2015 were included in the study. After obtaining the informed consent, hearing screening was conducted within 48 hours after birth. At the same time, heel blood collection was done for genetic screening for nine hot spot mutations in four common deafness genes. Those failing to pass the initial hearing screening received the second round screening at 42 days after birth in the maternity hospital. Those failing the combined screening were referred to one of the six state designated diagnosis and treatment centers for pediatric hearing impairment in 3months. The centers provided diagnostic hearing testing and genetic counseling. Data from combined screening were collected and analyzed. Results A total of 30,835 newborns（97.6% of the newborns in the study duration） received combined hearing/genetic screening, showing successful outreach efforts well received by the community. The rate of hearing screening failure was 1.51% and that of genetic screening failure was 4.73%. The rate of hearing screening failure among the newborns who failed the genetic screening（3.8%） was higher than that among those passing the genetic screening（1.4%）（P〈0.001）, suggesting that failing either screening modality could represent increased risk of failing the other screening modality. Among the 1,457 newborns who failed the genetic screening, GJB2 gene mutations were the most commonly seen（55.4%）, followed by SLC26A4 gene mutations（34.3%）. There were 74 cases of mitochondrial 12 s r RNA gene mutations.Five newborns were found to have homozygous or compound heterozygous mutations and hearing loss was confirmed in four of them. Heterozygous mutations were found in 1,452 newborns, and14 of them were diagnosed with hearing loss.Conclusions Combined hearing/genetic screening is feasible and easy to be adopted in clinical practice. The hearing and genetic screenings are complimentary to each other. The combined screening is the most effective screening modality available today.