新生儿听力筛查与耳聋基因筛查联合应用的意义

  目的  在传统新生儿听力筛查基础上，建立江苏省南通市新生儿听力与基因联合筛查模式，探讨其筛查效果及应用价值。  方法  对2016年1月 — 2020年12月在南通市6家医院出生的39 923例新生儿队列开展听力与基因“四阶段”联合筛查及随访研究。  结果  有35 920例新生儿纳入分析，联合筛查共检出听力损失患儿151例（4.20 ‰），其中耳聋基因携带者76例。基因普遍筛查（基因普筛）发现热点基因突变的阳性携带率为39.98 ‰，最常见的耳聋基因及其突变类型依次是GJB2 235delC、SLC26A4 IVS7-2、GJB2 299_300delAT、GJB2 176_191del16。与传统新生儿听力筛查相比，联合筛查多发现33例漏诊的听力损失患儿，以及588例环境敏感性基因突变携带者。93例基因普筛阴性的听力损失患儿进行扩展性耳聋基因筛查（基因扩筛），发现18例（19.35 %）存在其他基因突变，其中13例患儿为重/极重度听力损失。随访至2021年6月30日，发现12例迟发性听力损失患儿，其中10例为耳聋基因突变携带者。  结论  本研究通过一种较为全面高效的模式，为新生儿听力与基因联合筛查的推广提供了科学基础和实现手段。

Prevalence of permanent neonatal hearing impairment: systematic review and Bayesian meta-analysis

  Objective  To evaluate screening effect and potential application of a new screening model – routine detections combined with genetic screening for newborn hearing screening in Nantong city.   Methods  A “4-stage” hearing and genetic screening program was established and performed among 39 923 newborns in six hospitals in Nantong city of Jiangsu province from January 2016 through December 2020. Follow-up surveys were also conducted among all the newborns.   Results  Complete data on 35 920 newborns were included in the analysis. Of all the newborns screened, 4.20‰ (151) were diagnosed with hearing loss (HL) and genetic mutations were detected among 76 of the HL cases. The proportion of the newborns carrying mutated deafness-related genes was 39.98‰ based on limited genetic screening in all the newborns, with the top four mutations of GJB2 235delC, SLC26A4 IVS7-2, GJB2 299_300delAT, and GJB2 176_191del16. In contrast to routine screening, totally 33 more HL cases and 588 carriers of late-onset HL susceptibility genes were identified with the