A Study of Universal Newborn Hearing Screening Combined with Deafness Predisposing Gene Screening in 965 Newborns / 听力学及言语疾病杂志

ABSTRACT

Objective To investigate the clinical significance of universal newborn hearing screening for deaf‐ness predisposing genes in newborns .Methods A total of 965 newborns at Subei Hospital in Yangzhou were taken blood samples at heel and received for deafness predisposing genes screening .The most common deafness genes were detected by gene sequencing ,including mt12SrRNA c .1555A > G ,c .1494C > T ,GJB2 35delG ,167delT ,176_191del16 ,235delC ,299_300delAT ,SLC26A4 281C> T ,589G>A ,IVS7 -2A>G ,1174A> T ,1226G> A ,1229C> T ,IVS15+5G> A ,1975G>C ,2027T > A ,2162C> T ,2168A> G ,GJB3538C> T ,547G> A .At the same time ,all infants received hearing screening .Otoacoustic emission(OAE) was used as the first step screening ,and OAE combined with auto-auditory brainstem response(AABR) detection were used as the second step screening . Results Fifty -three cases (5 .49% ) had partial gene mutation ,one case of 12SrRNA gene mutation ,33 cases of GJB2 gene mutation ,18 cases of SCL26A4 gene mutation ,one case of GJB3 gene mutation .Of 965 cases ,28 cases failed to pass hearing screening while 18 cases did not pass rescreening .There were 10 cases taking audiological di‐agnosis at the age of three months .Six cases were confirmed with hearing loss .There were 905 cases passed thehearing screening and genetic screening ,11 failed born hearing and gene screening .Conclusion That the newborn gene screening was added into the hearing screening can be helpful to find out the deafness predisposing genes and drug -induced or late-onset hearing loss .