Analysis of neonatal Hearing and Deafness Susceptibility Gene Combined Screening in Dianbai District of Maoming City

Zhao Qiaoyou; Li Jinfeng; Li Yuting

doi:10.3969/j.issn.1004-5775.2025.19.007

Abstract：Objective:To collect the application value and the results of neonatal hearing and deafness susceptibility gene combined screening in Dianbai District of Maoming City.Methods:The screening data and follow-up of hearing and deafness susceptibility genes of 4 565 neonates born in Maoming Dianbai District Maternal and Child Health Hospital from December 2021 to December 2023 were retrospectively analyzed.Results:There were 97.7%of neonates passed the primary hearing screening successfully.The binaural pass rate of hearing screening in neonates whose mothers and infants were in the same room was higher than that in neonates in neonatal intensive care unit(NICU),and the binaural and monaural failure rates were lower than that in neonates in NICU,the difference was statistically significant(P＜0.05).There were 91.43%of neonates who passed the hearing secondary screening,and 9 cases(0.20%)were finally diagnosed with hearing loss by hearing screening.Deafness susceptibility gene mutations were detected in 4.23%of neonates,and there were four major mutations:GJB2 gene(2.34%),SLC26A4 gene(1.36%),GJB3 gene(0.20%),and mitochondrial DNA gene(0.26%).The positive rate of deafness susceptibility gene mutations was higher than that of hearing failure in primary screening(P＜0.001).The incidence of hearing loss in neonates with negative deafness susceptibility gene mutation was 0.09%,which was significantly lower than that in neonates with positive deafness susceptibility gene mutations(2.59%),the difference was statistically significant(P＜0.001).The follow-up rate of neonates who failed the primary hearing screening and were positive for deafness susceptibility gene screening was 97.65%.Except for 1 case with cochlear implant and 3 cases with hearing aids,the hearing of the rest recovered after intervention and guidance.Conclusion:In Dianbai District of Maoming City,the incidence of hearing loss of normal neonates was 0.20%,and 4.23%of neonates carry deafness susceptibility gene,among which GJB2 gene is the most common,and the incidence of hearing loss of newborns with deafness susceptibility gene is significantly higher than that without carriers.According to the results of the combined screening of hearing and hearing susceptibility genes,effective intervention and guidance for neonates who have not passed the hearing screening and carry the hearing susceptibility genes can prevent and treat deafness.