Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Abstract

Objective. To detect the carrier rates of deafness gene variants in populations in Ningbo and analyze the risk of hereditary hearing loss through concurrent hearing and genetic screening tests. Methods. Two thousand one hundred and seventy-four newborns were enrolled from November 2018 to August 2019. All subjects underwent hearing screening and newborn deafness genetic screening with 15 variants in 4 genes, and the positive sites were simultaneously verified by sequencing. Results. The total carrier rate of genetic variants in Ningbo reached 4.32%, when GJB2 c.235delC was the variant with the highest prevalence (2.12%), approximately accounting for 48.9% of the total carrier frequency. The carrier frequency of SLC26A4 c.919-2A>G was 0.87%, while the most common variant in mitochondrial DNA (mtDNA) MT-RNR1 gene was m.1555A>G, and its carrier frequency was 0.184%. In the OAE testing, 92 newborns passing hearing screening were tested positively for variants in 4 genes, and 2 of 42 newborns who failed in the first hearing test were found to mutate in 4 genes. Conclusion. Herein, the results concerning the carrier rates for deafness gene mutations of Ningbo population are reported. Our study is beneficial to the insight into the deafness genomic epidemiology for deafness genes in Ningbo population and provides the reference for healthcare in Ningbo.

Early hearing detection and intervention (EHDI) programmes for infants and young children in low-income and middle-income countries in Asia: a systematic review

“…Those studies that reported the use of AABR in the initial stage of screening either employed AABR solely for both stages50 or a combination of AABR and OAE to screen only high-risk newborns 20 52. Four studies from China used two-stage screening coupled with genetic hearing screening 21–23 25 53…”

A novel method for detecting nine hotspot mutations of deafness genes in one tube

“…This method is more suitable for screening many pathogenic genes and identifying new mutation sites without clear diagnostic information. Although microarray technology can detect more deafness-related mutation sites at the same time 9 , this method also requires a Microarray Scanner and detection system, which increases the cost of detection and can produce false positives and reduce the accuracy of detection 49 . Sanger sequencing, microarray chips, and WES detection methods also have a common problem: the lid of the reaction tube must be opened to remove the PCR products for follow-up testing, which increases the risk of laboratory contamination.…”

“…Therefore, detection of deafness susceptibility genes is of great significance. At present, the common screening methods for deafness susceptibility genes are the melting curve 8 , gene chip (including the microarray method) 9 , Sanger sequencing 10 , and second-generation sequencing methods (including whole-exome sequencing, WES) 11 .…”

Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province

“…Genetic mutation spectrum of hearing loss genes varies among different regions and ethnic populations caused by diverse genetic background ( 23 ). Several previous typical studies of common genetic screening of hearing loss among neonates in different areas of China were reviewed in Table 6 , including the screening method and tested spot numbers.…”