International Journal of Clinical Research

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.

Neonatal deafness gene screening; Application effect analysis; Early intervention strategy; Hierarchical intervention