Analysis of the correlation between neonatal OAE and ABR hearing screening and deafness gene screening and the effect of combined screening
Objective To investigate the difference of neonatal hearing screening results of OAE and ABR and their correlation with SLC26A4,GJB2,GJB3 and 12S rRNA gene mutations,and to analyze the efficacy of combined screening.Methods A total of 24835 newborns were selected from the Department of Otolaryngology,Tongzhou Maternal and Child Health Hospital of Beijing from June 2019 to June 2023 for hearing screening,and neonatal SLC26A4(site:IVS 7-2 A>G,c.2168 A>G,c.1975 G>C,c.1174 A>T,c.1226 G>A,c.2027 T>A,IVS15+5G>A,c.1229 C>T),GJB2(site:c.235delC,c.299-300DEL AT,c.176-191DEL16,c.35DELG),GJB3(site:c.538 C>T),12S rRNA(site:m.1555 A>G,m.1494 C>T)gene detection and OAE and ABR hearing screening results,and compared the neonatal SLC26A4,GJB2,GJB3,12S rRNA gene mutation rate of different OAE and ABR hearing screening results.The correlation between SLC26A4,GJB2,GJB3,12S rRNA gene mutations and neonatal OAE and ABR hearing screening results were analyzed,and the difference of OAE and ABR hear-ing screening results corresponds to mutated genes.A Logistic combination model was used to analyze the prediction results of OAE and ABR hearing screening combined with hearing loss gene screening for neonatal hearing impairment.Results A total of 24835 neonates were included in this study.Among them,62 cases(the failure rate was 0.25%)failed the final screening of OAE.The final ABR screening failed 69 cases,the failure rate was 14.81%.The gene mutation rates of SLC26A4,GJB2,GJB3 and 12S rRNA in neonates who failed OAE and ABR hearing screening were significantly higher than those who passed OAE and ABR hearing screening(P<0.05).The detection rate of GJB2 mutation in neonates without OAE passing was higher than that of those without ABR passing,and the detection rate of SLC26A4 mutation was lower than that of those without ABR passing(P<0.05).There was no significant difference in the detection rates of GJB3 and 12S rRNA mutation(P>0.05).SLC26A4,GJB2,GJB3 and 12S rRNA gene mutations were positively correlated with the failure of neonatal OAE and ABR hearing screening(P<0.05).Logistic multivariate regression analysis showed that OAE,ABR,SLC26A4,GJB2,GJB3 and 12S rRNA gene mutations were all independent risk factors for neonatal deafness(P<0.05).The prediction efficiency of the com-bined model based on Logistic multivariate regression results was higher than that of gene screening or OAE and ABR screening alone.Conclusion In neonates who failed OAE and ABR hearing screening,the incidence of SLC26A4 and GJB2 gene mutations was higher,mainly GJB2,while those who failed ABR mainly carried SLC26A4 gene.SLC26A4,GJB2,GJB3,12S rRNA gene mutations are correlated with the results of neonatal OAE and ABR hearing screening.The combination of OAE and ABR gene screening can improve the prediction efficiency of neonatal hearing loss.