Synchronous Detection And Follow-up On Screening Of Newborn Hearing And Deafness Gene

Ojective In this study, we employed hearing screening and gene screening concurrently to explore the mutations associated with hearing loss in local area of Shandong Province, clarify the frequency of hearing loss and mutations in room-in and NICU newborns, and promptly detect infants with high risks of late-onset hearing loss and drug-induced hearing loss.Methods3288newborns born between March2013and December2013in Jinan Maternity and Child Care Hospital received synchronized hearing screening and deafness-susceptibility genes screening. Transiently Evoked Otoacoustic Emissions (TEOAE) was used in rooming-in newborns, while TEOAE and Auto Auditory Brainstem Response (AABR) were used in infants in neonatal intensive care unit (NICU). Concurrently, two drops of heel blood were collected with filter paper.9mutations(GJB2(235delC,35delG,299delAT,176de116), SLC26A4(IVS7-2A>G,2168A> G),GJB3(538C>T),12SrRNA (1555A>G,1494C>T))of4frequent genes associated with Chinese hearing loss were determined by gene chip in these dried blood sample.87cases of congenital hearing loss were using as control group.Results Among3288newborns,363cases failed to pass the hearing screening, and36cases of these363newborns carried mutations, with a carrier rate of9.91%.2925cases passed the hearing screening, of which118carried mutations, with a carrier rate of3.86%. There was a significantly statistic difference (p=0.0004<0.05) in carrier rate between two groups.149of3288cases carried mutations, with a carrier rate of4.53%, among which118cases passed the hearing screening and36cases failed.7cases were diagnosed to have hearing loss. Homozygous GJB2mutation was detected in2cases, compound heterozygous GJB2mutation was detected in1case, and heterozygous GJB2mutation in88cases. There were91cases carried GJB2mutations totally, with a total rate of2.76%. There were42cases were detected to carry heterozygous SLC26A4mutation, with a carrier rate of1.24%.9cases had heterozygous GJB3mutation, with a carrier rate of0.27%.6cases had homogeneous mitochondria12SrRNA mutation, and1had heterogeneous mutations. There were7cases totally, with a total rate of0.21%.87infants with hearing impairment served as control group, of which32cases were detected to carry mutations, with a carrier rate of36.78%. There were great statistic significances (p=0.00<0.05) between control group and newborn group. Diagnostic audiology was performed within three months, and a follow-up action was taken for the newborns who failed hearing screening (or) carried deafness gene mutations.Conclusion Clarifying the frequency of hot spot mutations and its correlation with phenotype of hearing loss, and setting up a follow-up system in infants with single heterozygous mutation and mutations associated with drug-induced hearing loss but passed hearing screening, can help to detect infants with hearing defects early and effectively prevent late-onset hearing impairment. Neonatal hearing screening and gene screening are a good complement of each other, and neither of which can be used singly for accurate evaluation of genetic hearing loss.