# Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns

## TL;DR

This study shows that combining hearing tests and genetic screening in newborns helps identify those at risk for hereditary deafness.

## Contribution

The study demonstrates the effectiveness of integrating hearing screening with genetic testing for early detection of hereditary deafness.

## Key findings

- GJB2 c.235delC and SLC26A4 IVS7-2 A>G were the most common mutations detected.
- Combining hearing and genetic screening identified high-risk infants for hereditary deafness.
- Most infants with genetic mutations passed initial hearing screening, highlighting the need for further evaluation.

## Abstract

This study aimed to evaluate the significance of integrating hearing screening with genetic testing for hereditary deafness.

A retrospective analysis was performed on the hearing screening and genetic testing outcomes of 10,754 newborns delivered at Hangzhou Women’s Hospital from June 2020 to December 2022. Hearing evaluations were conducted using transiently evoked otoacoustic emissions (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected, and 15 variants across four genes (GJB2, GJB3, SLC26A4, and mtDNA 12S rRNA) were examined using a DNA microarray platform.

Among the 10,754 infants, the most commonly detected mutations were GJB2c.235delC (47.26 %) and SLC26A4 IVS7-2 A>G (21.17 %). A total of 62 infants (0.58 %) were referred for additional hearing assessments, while 529 (4.92 %) tested positive for genetic mutations (including heterozygous, homozygous, or compound heterozygous variants, as well as mtDNA 12S rRNA homoplasmy), with 522 (4.85 %) passing the hearing screening. Three infants (0.028 %) had two variants in GJB2 (either homozygous or compound heterozygous), and one of these infants passed the newborn hearing test. Additionally, 33 infants (0.307 %) had the MT-RNR1 variant (m.1555A>G or m.1494C>T), all of whom passed the hearing screening.

The most prevalent mutations associated with deafness were identified as GJB2 c.235delC, SLC26A4 IVS7-2 A>G, and m.1555A>G. The combination of hearing screening and genetic testing for deafness effectively identifies high-risk children with hereditary deafness for further intervention.