Combined screening report of hearing screening and deafness susceptibility genes screening for newborns
ZHANG Zhang
FAN Lian
YU Feng-ci
LIU Ying
LI Zhen-an
DAI Yi-heng
WU Xue-li
LUO Wei-dong
Abstract：Objective To investigate the clinic signification of newborn hearing screening combined with deafness susceptibility genes screening. Methods 1 440 newborns(3 ~ 5 days after birth) were screened for 8 hot spot hearing loss associated mutations from GJB2, mt12S rRNA and SLC26A4. At the same time, all infants received hearing screening. Those who failed to pass two-step test were referred to further audiological assessment. Results The carrier rate of commonmutations was 1.46% for GJB2 c.235delC, 0.35% for GJB2 c.299-300delAT, 0.42% for mt12S rRNA c.1555A > G, 0.42% for SLC26A4 c.IVS7-2A > G and 0.14% for SLC26A4 c.2168A > G. The total carrier rate was 2.78%. 10 infants were diagnosed as hearing loss in the hearing screening and follow-up audiology assessment (6.94‰) and 5 were diagnosed as severe hearing loss (3.47‰). 32 hearing loss associated mutation carriers passed the hearing screening. Conclusions Genetic screening of newborn hearing screening can be helpful to find out neonates with late-onset and progressive hearing impairment, which were significant for early intervention, regular follow-up and reduction of deafness.
Keywords：DeafnessNewbornsHearingGene mutationScreening
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 2754-2756 )