Abstract:Objective: To study the application value of transient evoked otoacoustic emissions (TEOAE) combined with next generation sequencing technology (NGS) in neonatal hereditary deafness screening. Methods: 961 newborns aged 2-5 days were screened by TEOAE, NGS and TEOAE combined with NGS, and their parents were screened by NGS. Newborns who failed TEOAE screening were reexamined on the 42 nd day, and those who failed TEOAE screening were examined for audiology after 3 months. Twenty two loci of four common deafness genes GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3 were detected. Compared the fail rate of TEOAE combined with NGS in neonatal hereditary deafness screening. Results: TEOAE technology failed to pass the initial screening rate of 0.42% (4 / 961) in 961 newborns. The failure rate of NGS gene screening was 3.22% (31 / 961), including GJB2 gene mutation positive rate 1.98% (19 / 961), SLC26A4 gene mutation positive rate 0.83% (8 / 961), GJB3 gene mutation positive rate 0.31% (3 / 961), mitochondrial 12SrRNA gene mutation positive rate 0.10% (1 / 961). The parents of the newborn, TEOAE screening failed, At least one of them carried the deafness gene. In TEOAE combined with NGS gene detection, gene positive was detected in 49 newborns. Compared with the failure rate of single NGS gene test or TEOAE hearing screening, the failure rate of NGS combined with TEOAE hearing screening was significantly higher (χ2=39.291, 4.206,P<0.05). Conclusions: The screening effect of TEOAE combined with NGS technology in the screening of neonatal hereditary deafness is better than that of TEOAE alone or NGS gene detection technology.