Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
Christine D'Aguillo, Sara Bressler, Denise Yan and 4 others
PMID 31264897WHAT IT FOUND
Adding genetic screening to standard newborn hearing tests may identify about 1.4% of infants who pass the initial screen but carry hearing-loss mutations.
This could catch delayed-onset hearing loss earlier, though it also identifies many carriers who may never develop hearing loss.
Key findings
01Across 16 studies, the weighted average rate of infants who passed universal newborn hearing screening (UNHS) but had a positive genetic screening result was 1.4%.
02The addition of genetic screening to UNHS is estimated to detect one additional at-risk infant for every 42 infants screened.
03Genetic screening frequently identifies mono-allelic mutations (carriers) rather than bi-allelic mutations, which complicates interpretation and follow-up.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The 16 included studies varied widely in population, genetic testing methods, and UNHS protocols, making direct comparison difficult. Many studies included 'variants of uncertain significance' in the positive genetic screening group, which may dilute the accuracy of the detection rates. A positive genetic screening result does not guarantee the child will develop hearing loss, as penetrance varies. The review does not account for the long-term clinical outcomes or the actual impact of early identification on speech and language development. Cost and logistical challenges of widespread genetic screening, including counseling and interpretation, were not fully addressed.
Declared interests
The paper is supported by the National Institutes of Health (Extramural). No other conflicts of interest are explicitly declared in the provided text.
The easy way to misread this
Do not interpret a positive genetic screening result as a confirmed diagnosis of hearing loss. Most mutations identified were mono-allelic, meaning the infant is a carrier but may not develop hearing loss. Similarly, a negative genetic screen does not rule out hearing loss, as not all cases are genetic.