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Concurrent hearing and genetic screening in a general newborn population
Ling Guo1, Jiale Xiang2, Lei Sun1
1Jining Maternal and Child Health Care Service Center, Jining, 272000, China.
Human Genetics
|February 1, 2020
Summary
Concurrent genetic screening significantly enhances newborn hearing screening, identifying infants with hereditary hearing loss and ototoxicity risks missed by standard tests. This approach improves early detection and informs personalized clinical management for affected families.
Area of Science:
- Genetics
- Audiology
- Neonatal Care
Background:
- Newborn hearing screening has limitations in detecting delayed-onset hearing loss and drug-induced ototoxicity.
- Some severe to profound hearing loss cases are missed by current newborn screening protocols.
- Aminoglycoside-antibiotic-induced ototoxicity poses a risk undetectable by standard hearing tests.
Purpose of the Study:
- To evaluate the effectiveness of combining hearing and genetic screening in newborns.
- To demonstrate the practical benefits of concurrent screening in the general population.
- To identify infants at risk for hereditary hearing loss and ototoxicity.
Main Methods:
- Conducted concurrent hearing and genetic screening for newborns between September 1, 2015, and January 31, 2018.
- Analyzed data from 239,636 eligible infants with a median age of 19 months.
- Identified prelingual hearing loss, positive/inconclusive genotypes, and genetic risks for ototoxicity.
Main Results:
- Identified 548 infants (0.23%) with prelingual hearing loss.
- Genetic screening detected 14 patients with positive hearing loss genotypes and 27 with inconclusive genotypes who passed hearing screens.
- Identified 570 newborns (0.23%) and their families at risk for ototoxicity, missed by hearing screens.
Conclusions:
- Genetic screening complements newborn hearing screening by enhancing detection of hereditary hearing loss and ototoxicity risks.
- Enables genotype-based clinical management for infants and families identified with genetic predispositions.
- Suggests further validation in diverse populations and cost-effectiveness analyses are needed.
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