Combined hearing screening and genetic screening of deafness among Hakka newborns in China

Abstract

ObjectiveHearing loss (HL) can severely impact the quality of human life. To explore strategies for clinical interventions, we investigated hearing screening coupled with genetic testing of deafness among Hakka newborns. MethodsThe testing was performed on 4205 newborns who born in Heyuan of Guangdong province between December 2018 and November 2019. Hearing screening used otoacoustic emission(OAE) coupled with automatic auditory brainstem response(AABR). A total of 13 hot spot mutations in GJB2, SLC26A4, mtDNA, and GJB3 genes were screened using PCR accompanied by flow-through hybridization technology. ResultsAmong the 4205 newborns, the number of 47 individuals who failed the hearing testing accounted for 1.12％(47/4205). The genetic screening displayed that 176 individuals(4.19%,176/4205) discovered to carry more than one mutant site. The gene carrier frequency of GJB2, SLC26A4, GJB3, and mtDNA was 2.24%, 1.76%, 0.19%, and 0.07% respectively. The most carried mutations were GJB2 c.235del (2.05%), followed by SLC26A4 c.IVS7-2A > G(1.38%). A total of 216 (5.14%, 216/4205) high-risk children detected by combined hearing screening and genetic screening of deafness. Pairwise comparison (1.12% vs 4.19% vs 5.14%) showed significant differences for the positive rate of detection(χ 2 = 11.045, P < 0.001). The difference was no statistical significance between neonatal demographics information and genetic mutations using logistic regression analysis(all P > 0.05). ConclusionsAmong Hakka newborns in Heyuan, the carrier rate of GJB2 c.235delC was the highest. Combining with two screening methods will effectually increase the detection rate of neonatal deafness and play an essential role in clinical intervention.