Neonatal Hearing Screening Combined With Deafness Gene Clinical Significance Of Screening

Objective To compare the distribution of deafness genes in newborns who have passed the hearing screening and those who have not passed the hearing screening,and to explore the clinical significance of combined screening in the prevention of birth defects of newborns with deafness.Methods Otoacoustic emissions(OAE)hearing screening was carried out for newborns born in Inner Mongolia Autonomous Region Maternal and Child Health Hospital from January 2018 to May 2018.100 cases of newborns who failed to pass the hearing screening were selected as a group,hereinafter referred to as the non-passing group.100 cases of full-term pregnant newborns with no family history of deafness were randomly selected from the newborns who passed the hearing screening as another group,hereinafter referred to as the passing group.Gene chip technology was used to detect common deafness genes.Detection of 15 loci in 4 genes of common deafness genes in China,GJB2(235del C,299-300 del AT,176 del 16,35 del G),SLC26A4(IVS7-2A > G,2168 A > G,1174 A > T,1226 G > A,1229 C > T,1975 G > C,2017 T > A,IVS15 + 5G > A),GJB3(538C > T)and mitochondrial 12SrRNA(1555 A > G,1494 C > T)were detected.P < 0.05 was statistically significant.Results Six out of 100 newborns in the non-pass group showed gene mutation of deafness,accounting for 6%(6/100).The genotype of GJB2 235 del C was 4 cases,GJB2299-300 del AT was 1 case,SLC26A4 was 1 case.One of them showed malformation of the external auditory canal of the right ear,but the result of gene screening for deafness was negative.Whether there is a correlation between external auditory canal malformation and deafness gene screening needs further analysis.Among the 100 newborns in the pass group,5(5/100)showed deafness gene mutation.The genotype was SLC26A4 IVST-2A > G in 2 cases,SLC26A4 IVS15+5G > 1 case,GJB2 299del-AT in 1 case and GJB2 235del-C in 1 case.Conclusion(1)There are still deafness gene mutations in the auditory screening group.There is no significant difference between deafness gene mutations and auditory screening(P > 0.05).It is necessary to conduct joint screening in order to identify potential high-risk deafness patients.(2)The results showed that the most common type of deafness gene in Inner Mongolia was GJB2,of which 235 delC locus was the most common,followed by SLC26A4 gene.(3)The combination of hearing screening and deafness gene screening can discover the possible causes of deafness in the early stage,and carry out relevant interventions to avoid the occurrence of deafness to dumbness.