AI Article Synopsis
- Newborn hearing screening is crucial for identifying infants who may be deaf or hard of hearing (DHH), but it can sometimes miss mild or later-onset cases.
- Advances in genomic technologies offer better diagnosis for DHH in infants who don’t pass initial screenings, highlighting a potential need for comprehensive genomic screening for all newborns.
- This shift towards genomic testing aims to improve the early detection of genetic causes of hearing loss, ultimately aiding long-term development in affected children.
Article Abstract
Background: Newborn hearing screening is a physiologic screen to identify infants who may be deaf or hard of hearing (DHH) and would benefit from early intervention. Typically, an infant who does not pass the newborn hearing screen is referred for clinical audiology testing, which may be followed by genetic testing to identify the etiology of an infant's DHH.
Content: The current newborn hearing screening paradigm can miss mild cases of DHH or later-onset DHH, leaving a child at risk for unrecognized DHH, which could impact long-term language, communication, and social development. Genomic technologies are improving the diagnosis of DHH in newborns who fail their newborn hearing screen, and a case is being made for genomic screening for DHH in all newborns.
Summary: The genomic era brings a wealth of opportunities to screen newborns for genetic causes of hearing loss on a population wide basis, some of which are already being implemented in a clinical setting.
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| http://dx.doi.org/10.1093/clinchem/hvae193 | DOI Listing |
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Article Synopsis
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