title: Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.
abstract: The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss.
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Gen-Dong
authors.initials: GD
authors.lastname: Yao
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Shou-Xia
authors.initials: SX
authors.lastname: Li
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Ding-Li
authors.initials: DL
authors.lastname: Chen
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Hai-Qin
authors.initials: HQ
authors.lastname: Feng
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Su-Bin
authors.initials: SB
authors.lastname: Zhao
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Yong-Jie
authors.initials: YJ
authors.lastname: Liu
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Li-Li
authors.initials: LL
authors.lastname: Guo
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Zhi-Ming
authors.initials: ZM
authors.lastname: Yang
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Xiao-Fang
authors.initials: XF
authors.lastname: Zhang
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Cai-Xia
authors.initials: CX
authors.lastname: Sun
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Ze-Hui
authors.initials: ZH
authors.lastname: Wang
authors.affiliation: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
authors.forename: Wei-Yong
authors.initials: WY
authors.lastname: Zhang
keywords: GJB2 gene; MassARRAY platform; SLC26A4 gene; gene screening; hearing screening; mitochondrial 12S rRNA; newborn