Analysis of combined screening results of the hearing and deafness genes in 10754 newborns

Abstract

Abstract Objective: The aim of this study was to determine the clinical significance of hearing screening coupled with genetic testing of deafness in hereditary deafness. Methods: This study retrospectively analyzed the hearing screening coupled with genetic testing of deafness results of 10,754 newborns which born in Hangzhou Women's Hospital from June 2020 to December 2022. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and fifteen variants in four genes (GJB2, GJB3, SLC26A4 and m t DNA 12S r RNA), were screened using a DNA microarray platform. Results: A total of the 10,754 infants, the most common mutation variants were GJB2c.235delC (47.26%) and SLC26A4 IVS7-2 A>G (21.17%), 62 (0.58%) were referred bilaterally or unilaterally for hearing screening; 529 (4.92%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mt DNA 12S r RNA homoplasmy or heteroplasmy), among whom 522 (4.85%) passed hearing screening. Three (0.028%) infants carried two variants in GJB2(homozygote or compound heterozygote) and 1 of those infants passed newborn hearing screening. In total, 33 (0.307%) infants carried the mt DNA 12S rRNAvariant (m.1555A>G or m.1494C>T), and all of them passed newborn hearing screening. Conclusion: The positive rate of deafness gene mutations mainly in GJB2 c.235delC, SLC26A4IVS7-2 A>G, and m.1555A > G variants. Hearing screening combined with genetic screening for deafness is helpful in identifying high-risk children with hereditary deafness for follow-up intervention.