ArticleThe Laryngoscope2020
Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening.
Article in The Laryngoscope, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed.
- Congenital Cytomegalovirus and Hearing Loss: The State of the Art.Journal of clinical medicine · 2023Review
- Genetic testing for pediatric hearing loss: no time to waste.Human genetics · 2022Article
- Hearing Loss Caused by HCMV Infection through Regulating the Wnt and Notch Signaling Pathways.Viruses · 2021Review
- Future directions for screening and treatment in congenital hearing loss.Precision clinical medicine · 2020Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
objectives/hypothesisTo determine the prevalence of children with genetic hearing loss who are cytomegalovirus (CMV) positive at birth and the relative proportion of genetic and CMV etiology among children with congenital bilateral hearing loss. STUDY
designDatabase review.
methodsWe performed a review of clinical test results for patients undergoing comprehensive genetic testing for all known hearing loss-associated genes from January 2012 to January 2019. This population was reviewed for reported CMV status and genetic causes of congenital bilateral hearing loss.
resultsIn the OtoSCOPE database, 61/4,282 patients were found to have a documented CMV status, and 661/4282 had documented bilateral congenital hearing loss. Two patients were identified who had both a positive CMV result and a genetic cause for their hearing loss. Forty-eight percent of patients with bilateral congenital hearing loss (320/661) were found to have a genetic etiology. In 62% (198/320), the hearing loss was associated with pathogenic variants in GJB2, STRC, SLC26A4 or an Usher syndrome-associated gene.
conclusionsWe estimate that ~2% of CMV-positive newborns with hearing loss have a known genetic variant as a cause. The subcohort of CMV-positive newborns with symmetric mild-to-moderate bilateral hearing loss will have at least a 7% chance of having pathogenic gene variants associated with hearing loss. In a CMV-positive neonate who failed their newborn hearing screen bilaterally, genetic screening needs to be considered for accurate diagnosis and possible deferment of antiviral treatment. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:2714-2718, 2020.
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