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.
ABSTRACT
Objective To analyze clinical results of newborn hearing concurrent genetic screening and to ex-plore the significance of genetic test and potential correlations between the genotype and clinical phenotype.Methods Newborns in Foshan born during May,2012 and September,2013 were recruited.Two-step hearing screening was carried out by using AABR (automated auditory brainstem response).Blood samples were collected with a standard protocol for testing hot-spot mutations of common deafness-susceptibility genes.ResuIts A total of 10 238 newborns,including 9 295 rooming-in infants and 943 NICU infants,received hearing screening and 99.16%of passed the initial screening.The passing rates of rooming-in and NICU infants were significantly different (χ2 =99.1,PG heterozygous mu-tation frequency was 0.80% (82/10 238)and the homozygous mutation frequency was 0.03% (3/10 238);c.2168A>G heterozygous mutation frequency was 0.12% (12/10 238).MTRNR1 1555A>G heteroplasmic mutation fre-quency was 0.04% (4/10 238)while the homoplasmic mutation frequency was 0.18% (18/10 238).1494C>T ho-moplasmic mutation frequency was 0.01% (1/10 238).GJB2 c.235delC and SLC26A4 c.919 -2A>G mutations were found to be the most recurrent mutations in participants,and finally eight infants aged 6 days to 25 months di-agnosed with moderate to very severe sensorineural hearing loss were correlated with these two mutations.ConcIu-sion Genetic screening is a potent strategy to complement the conventional hearing screening since it is helpful for determining high risk individuals and early discovering possible late-onset hearing loss.