Application effect and early intervention strategies of neonatal deafness gene screening in Yangzhou area‌
扬州地区新生儿耳聋基因筛查应用效果及早期干预策略研究

摘要

目的 探讨扬州地区新生儿耳聋基因筛查的应用效果，分析基因突变率与听力通过率的关联，为早期干预提供依据。方法 回顾性分析 2020-2021 年扬州市妇幼保健院 6567 例新生儿的耳聋基因筛查及听性脑干反应（ABR）诊断数据，统计基因突变率、听力损失程度分布及基因型与听力表型的相关性。结果 基因阳性率为 5.19%（341/6567），其中GJB2、SLC26A4 和mtDNA-1555突变占比分别为49.56%、36.95%和5.27%；ABR诊断显示正常听力通过率为28.3%，基因阳性组中重度听力损失比例显著高于基因阴性组（52.9% vs 35.4%，P<0.001）。结论 扬州地区新生儿耳聋基因筛查可有效识别高风险人群，结合ABR诊断结果，需建立基于基因型的分层干预体系，针对GJB2纯合突变、复合杂合突变及mtDNA-1555突变等高危类型实施早期听力重建或药物规避措施，同时加强NICU患儿等高危群体的监测，以优化儿童听力健康管理。

Abstract

Objective To explore the application effect of neonatal deafness gene screening in Yangzhou area, analyze the association between the gene mutation rate and the hearing pass rate, and provide a basis for early intervention.
Methods A retrospective analysis was conducted on the deafness gene screening and auditory brainstem response (ABR) diagnostic data of 6,567 newborns in Yangzhou Maternal and Child Health Hospital from 2020 to 2021. The gene mutation rate, the distribution of hearing loss degree, and the correlation between genotype and hearing phenotype were statistically analyzed.
Results The positive rate of genes was 8.94% (341/6567), among which the proportions of GJB2, SLC26A4 and mtDNA 1555mutations were 49.56%, 36.95% and 5.27% respectively; The ABR diagnosis showed that the pass rate of normal hearing was 28.3%. The proportion of moderate to severe hearing loss in the gene positive group was significantly higher than that in the gene negative group (52.9% vs 35.4%, P<0.001).
Conclusion   neonatal deafness gene screening in Yangzhou can effectively identify high-risk groups. Combined with the results of ABR diagnosis, it is necessary to establish a hierarchical intervention system based on genotype, implement early hearing reconstruction or drug avoidance measures for high-risk types such as GJB2 homozygous mutation, compound heterozygous mutation and mtdna-1555 mutation, and strengthen the monitoring of NICU children and other high-risk groups, so as to optimize children's hearing health management.