An AnaIysis of Newborn Hearing Concurrent Genetic Screening ResuIts / 听力学及言语疾病杂志

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.