A Clinical Study of Hearing Concurrent Genetic Screening in High-Risk Newborns
Abstract: Objective: To investigate the mutation frequency and types of deafness susceptibility genes (GJB2, 12SrNA, SLC26A4) among high-risk neonates and to discuss the clinic signification of combining the original hearing screening with deafness susceptibility genes screening. Methods: 920 newborns with risk factors of hearing loss in the neonatology ward were chosen to collect films of heel blood for the study. Eight mutations of three genes (GJB2 35delG, 176-191del16, 235delC, 299-300delAT; SLC26A4 IVS7-2A > G, 2168 > G; MT 12SrRNA 1494C > T, 1555A > G) were detected by matrix assister laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Meanwhile, all these newborns received hearing screening. Auto-auditory brainstem response (AABR) was used for the first step screening and otoacoustic emission (OAE) combined with AABR was used for the second step screening. Audiology diagnosis would be applied for those who failed to pass the hearing screening when they were 3 months old. 938 healthy newborns in maternity ward as control group received same screening. Results: 35 infants with risk factors were deafness predisposing gene carriers. The overall carrier frequency of three genes was 3.8%, 34 were diag-nosed as hearing loss (3.7%) and 15 were diagnosed as severe hearing loss (1.63%). 30 (85.7%) carriers of deafness predisposing gene passed the hearing screening. 21 infants were deafness predisposing gene carriers in control group. The overall carrier frequency of three genes was 2.23%, 4 were diagnosed as hearing loss (0.43%) and 1 was diagnosed as severe hearing loss (0.11%). 17 (68%) carriers of deafness predisposing gene passed the hearing screening. Overall carrier frequency of three genes and detection rate of hearing loss or severe hearing loss were significant between the two groups. Conclusion: There were significant differences in carrier frequency of deafness predisposing gene and detection rate of hearing loss or severe hearing loss between the two groups. To combine newborns hearing screening with deafness susceptibility genes screening is able to find the newborns who will pass the regular hearing screening but with high deafness risks and late-onset deafness susceptibility genes. As a result, it is of guiding significance to early intervention, regular follow-up and deafness preventing.
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