Efficiency of hearing screening combined with gene mutation screening in neonates with high-risk of hearing impairment

Abstract

Objective To investigate the significance of hearing screening combined with gene screening for neonates with high-risk of hearing impairment. Methods Neonates admitted to the Neonatal Department of Guangdong Women and Children Hospital between July 2013 and June 2014 were enrolled in this study. They were divided into high-risk group (with high-risk for hearing impairment) (n=3 129), and control group (n=5 106). Neonate hearing screening was carried out using otoacoustic emission and automated auditory brainstem response. Blood samples were collected using a standard protocol for detecting the mutations of four common deafness genes, including GJB2, GJB3, SLC26A4 and mitochondrial 12s rRNA. Chi-square test was used to compare the differences of the pass rate of hearing screening and positive rate of gene mutations between the two groups. Results The rates of failure on otoacoustic emission, automated auditory brainstem response or both in the high-risk group were 11.92% (373/3 129), 10.32% (323/3 129) and 4.83% (151/3 129), respectively, higher than those in the control group [5.03%(257/5 106), 6.56%(335/5 106) and 2.02% (103/5 106)] (χ2=130.265, 37.354 and 51.196, all P=0.000). In the high-risk group, the overall positive rate of gene mutations was 5.63% (176/3 129), and the GJB2 and SLC26A4 gene mutation rates were 3.04% (95/3 129) and 2.40% (75/3 129)], all higher than the control group [3.15% (161/5 106), 2.04% (104/5 106) and 1.06% (54/5106)] (χ2=30.301, 8.216 and 22.517, all P 0.05]. The rates of failure on otoacoustic emission and automated auditory brainstem response of the neonates with deafness gene mutations were 9.50% (32/337) and 10.39% (35/337), respectively, higher than the neonates without [1.14% (90/7 898) and 1.29% (102/7 898)] (χ2=154.621 and 163.399, both P=0.000). Conclusion Combined hearing screening is of clinical significance for neonates with high-risk of hearing impairment. Key words: Hearing disorders; Deafness; Connexins; Membrane transport proteins; Mutation; Genetic predisposition to disease; Neonatal screening