Abstract: ［Abstract］  Objective〖HTSS〗〓To explore the value of hearing screening combined deafness genes detection in clinical application by analyzing the data from 23 763 newborns in Shijiazhuang.
〖HTH〗〖WTHZ〗Methods〖HTSS〗〓Newborn babies undergo simultaneous hearing screening and common deafness gene testing at 3 d after birth. The twostep screening method was used in hearing screening. Otoacoustic emission(OAE) was used at the beginning of the screen and OAE+automated auditory brainstem response was used on those who failed the first screening. Common deafness genes were detected by fluorescent PCR. Finally we analyzed the statistical datas of combined screening.
〖HTH〗〖WTHZ〗Results〖HTSS〗〓20 443 from the 23 763 newborns passed first hearing screening and the passing rate was 86.03%(20 443/23 763). 3 087 newborns recept the second hearing screening and 2 964 passed it. The second passing rate was 96.02%(2 964/3 087). 960 newborns carried mutations of common deafness genes and the carrier rate was 4.04%(960/23 763) from the random population of 23 763. The carrier rate was 16.26%(20/123) in those 123 infants unpassed the hearing screening who were called high risk population. Signification differences were observed between the two groups of random and high risk(P＜0.05). Finally 5 cases were diagnosed as hearing loss in the 37 newborns who were recalled for audiological diagnosis. We found a 235delC homozygous mutation and a 235delC/299300delAT compound heterozygous in GJB2 gene and 2 cases of IVS72A>G  homozygous mutation and a IVS72A>G/ 2168A>G  compound heterozygous in SLC26A4 gene among the 5 hearing loss. The 235delC/299300delAT compound heterozygous was diagnosed as moderate deafness and the others were profound hearing loss.
〖HTH〗〖WTHZ〗Conclusion〖HTSS〗〓The synchronous detection for clinical application could expand the scope of deafness prevention and improve the detection rate of neonatal deafness effectively. It contributes to the early detection of neonatal hearing disorders and provides early individualized targeted prevention. It can provide targeted medical advice and intervention for children with hearing disorders.

Key words: hearing tests, genetic testing, infant, newborn