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.

Newborn genetic screening for hearing impairment: a population-based longitudinal study

“…In contrast to previous studies that reported only cross-sectional or short-term observations of newborn genetic screening for deafness, [16][17][18] the strength of this study lies in that we prospectively performed comprehensive, long-term audiometric evaluations up to 6 years in babies with conclusive genotypes. These long-term observations are valuable in delineating the clinical features of the corresponding mutations.…”

“…15 Our findings concerning the feasibility and prognostic value of newborn genetic screening were subsequently validated in several studies. [16][17][18] However, implementing population-wide genetic screening for deafness involves multiple issues and demands careful appraisal with regard to the potential psychosocial impacts on families and economic burden on the healthcare system. Longitudinal follow-up and analyses of clinical outcomes in newborns who screened positive for deafness mutations are necessary to address these issues.…”

Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing

“…According to a survey from the World Health Organization (WHO) in 2013, there are ~360 million people with varying degrees of deafness worldwide (2). According to epidemiological data, ~1 in 1,000 newborns is diagnosed with congenital deafness (3). Deafness directly affects cognition, thinking and memory, resulting in a decline in the quality of life, thereby contributing to the burden of families and society (4).…”

Gene mutation analysis and genetic counseling for patients with non‑syndromic hearing loss in Linyi region

“…The deafness genes including GJB2, GJB3 and SLC26A4 are mainly autosomal recessively inherited, while 12SrRNA is maternally inherited (18,19). Detection of deafness couples and parents of patients with mutations in GJB2, SLC26A4 and 12SrRNA genes were performed to determine the genotypes and estimate recurrence risk on the basis of genotypes.…”