Hearing loss is a significant public health concern. This study assessed the carrier frequency of deafness-associated genetic variants and the yield of concurrent newborn hearing and molecular genetic screening in Chongqing, China.MethodsA total of 39,282 newborns underwent hearing screening using both transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR)....
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Discussion
Signed responses from readers of the wire.
Combined newborn hearing and genetic screening identifies significantly more at-risk infants than hearing screening alone; audiologists and program administrators in regions without concurrent genetic screening should consider advocating for its inclusion in newborn screening protocols.
With a very large sample size from a single hospital system, this study provides strong real-world data supporting the integration of genetic testing into standard newborn hearing screening programs.
- 0139,282 newborns underwent simultaneous hearing and genetic screening — one of the largest such studies reported.
- 02Identifies carrier frequency of deafness-associated genetic variants in a Southwest Chinese population.
- 03Concurrent screening detected cases that hearing screening alone would have missed.
- 04Results support expanding newborn screening programs to include genetic components.
- 05Has important implications for early intervention and genetic counseling in audiology.
Concurrent hearing and genetic screening in newborns detects more at-risk infants than hearing screening alone.
studysupportedDeafness-associated genetic variants are present at a measurable carrier frequency in the Southwest Chinese newborn population.
studysupported- PMID
- 42936954
- DOI
- 10.1177/01455613261500876.
- Journal
- Annals of Otology, Rhinology and Laryngology
- Publication type
- research_article
- Evidence level
- 2b
- Sample size
- 39,282
- Population
- Newborns in a hospital system in Southwest China
- Intervention
- Concurrent newborn hearing screening and genetic screening for deafness-associated variants
- Comparator
- Hearing screening alone (reference comparison)
Primary outcomes
Carrier frequency of deafness-associated genetic variants; Detection rate of at-risk newborns via combined screening
