Q Liu, SQ Shen, H Yu

Abstract

Purpose: The aim of our study was to evaluate the application of concurrent standard newborn hearing screening (NHS) and genetic screening for neonates in Shaoxing. Methods: According to whether passed NHS, 257 neonates and 514 neonates were divided into experimental group and control group, respectively. Twenty hotspot hearing-associated mutations of four common deafness-susceptibility genes (12S rRNA, GJB2, GJB3, SLC26A4) were analysed with heel blood samples by MALDI-TOF mass spectrometry. Findings: In the experimental group, 24 neonates were detected with hearing loss-associated gene mutations (9.34%, 24/257), and there were 5 pathogenic mutations. In the control group, 25 neonates were detected with hearing loss-associated gene mutations (4.86%, 25/514), there were 3 pathogenic mutations. The rates of gene mutations, pathogenic mutations and heterozygous mutations in the experimental group were statistically higher than the control group (P<0.05). Conclusions: Hearing loss susceptibility gene screening should be carried out for the neonates who did not pass NHS. Concurrent NHS and genetic screening should be undertaken in the areas where conditions permit.