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Published on: June 8, 2017
Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns
Qi Peng1,2, Suran Huang3, Yuan Liang1,2
11 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .
Insights
Concurrent genetic screening with newborn hearing screening (NHS) significantly improves the detection of infants at risk for hearing loss. This approach enables earlier intervention and potential prevention of later-onset hearing impairment, aiding genetic counseling.
Area of Science:
- Genetics
- Neonatal screening
- Audiology
Background:
- Hearing impairment is a common congenital condition.
- Early detection of hearing loss is crucial for speech and language development.
- Standard newborn hearing screening (NHS) may not identify all infants at risk.
Purpose of the Study:
- To evaluate the efficacy of concurrent genetic screening with NHS.
- To establish a scientific basis for genetic hearing screening in neonates.
- To improve early detection and intervention for hearing impairment.
Main Methods:
- 9317 neonates underwent genetic screening for mutations in four key deafness genes (GJB2, GJB3, SLC26A4, MTRNR1).
- Matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF-MS) was used for mutation analysis.
- Results of genetic screening and otoacoustic emission (OAE) testing were analyzed concurrently.
Main Results:
- 1.38% of neonates had hearing loss via OAE testing.
- 3.74% carried at least one mutant allele for deafness genes.
- 0.36% had a causal complement of mutations, indicating risk for future hearing loss despite passing initial screening.
Conclusions:
- Concurrent genetic and OAE screening enhances the detection of at-risk infants.
- Early identification facilitates timely intervention, potentially preventing speech and language delays.
- Genetic screening provides valuable information for targeted genetic counseling and preventative strategies, such as avoiding ototoxic antibiotics.
Objective:
The goal of this study was to investigate the use of concurrent genetic screening together with standard newborn hearing screening (NHS) in an effort to provide a scientific basis for the beneficial use of concurrent genetic hearing screening in newborns. Our aim was to improve the neonatal detection rate of hearing impairment and the potential for hearing loss, allowing for increased early intervention and potentially allowing for prevention of later onset hearing loss. This information could also be used to increase the effectiveness of genetic counseling regarding hearing impairment.
Methods:
A total of 9317 neonates from Children's Hospital of Dongguan and Dongguan People's Hospital were included in this study between January 2015 and October 2015. Twenty hotspot hearing-associated mutations of four common deafness- susceptibility genes (GJB2, GJB3, SLC26A4, and MTRNR1) were analyzed by matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF-MS). The results of genetic screening and NHS were concurrently analyzed.
Results:
A total of 129 infants (1.38%) exhibited hearing loss as determined by otoacoustic emission (OAE) testing. The genetic screening revealed that 348 (3.74%) individuals had at least one mutant allele. In total, 34 (0.36%) of the neonates carried a causal complement of mutations. The overwhelming majority of the genetically referred newborns passed the OAE hearing screening, but could be at risk for later hearing loss.
Conclusion:
This study furthers the understanding of the etiology of hearing loss and proves that it is beneficial to use genetic screening along with OAE screening of neonates to improve detection rates of at-risk infants. Our results show that this concurrent testing allows for better early identification of infants at risk for hearing loss, which may occur before speech and language development. Prevention of hearing loss can be achieved by avoiding the use of antibiotics containing amino glycosides in infants whose mutations make them extremely sensitive to these antibiotics. This information is also useful in genetic counseling, providing region-specific mutation information.
