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Testing for genetic and viral etiologies in congenital hearing loss based on a survey of cochlear implant centers: proposed HEARRING group consensus and future directions

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机构: [a]Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan [b]Department of Otolaryngology, La Paz University Hospital, Madrid, Spain [c]Fiona Stanley Fremantle Hospitals Group, Perth, Australia [d]Division of Surgery, Medical School, The University of Western Australia, Perth, Australia [e]King Abdullah Ear Specialist Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia [f]IdiPAZ Research Institute, Madrid, Spain [g]Biomedical Research Networking Centre On Rare Diseases (CIBERER), Institute of Health Carlos III (CIBERER-U761), Madrid, Spain [h]Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China [i]Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China [j]Madras ENT Research Foundation (P) Ltd Chennai, Chennai, India [k]Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria [l]Yorkshire Auditory Implant Service, Bradford Royal Infirmary, Bradford, UK [m]Department of Otorhinolaryngology, Head & Neck Surgery, Comprehensive Hearing Center, University of Würzburg, Würzburg, Germany [n]Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA [o]Kansas University Center for Hearing and Balance Disorders, Kansas City, KA, USA [p]Department of Otolaryngology, Head and Neck Surgery, University Hospital Frankfurt, Frankfurt am Main, Germany [q]St. Petersburg ENT and Speech Research Institute, St. Petersburg, Russia [r]Department of Otolaryngology and Head & Neck Surgery, Vrije Universiteit Brussel, University Hospital UZ Brussel, Brussels Health Campus, Brussels, Belgium [s]Department of Otorhinolaryngology and Head and Neck Surgery, Antwerp University Hospital, Edegem, Belgium [t]Department of Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium [u]Department of Otorhinolaryngology, Head & Neck Surgery, Johannes Wesling Klinikum Minden, Ruhr-University of Bochum, Minden, Germany [v]Department of Otorhinolaryngology, Head and Neck Surgery, St. Elisabeth Hospital, University of Bochum, Bochum, GermanywCatholic University of Córdoba and National University of Córdoba, Córdoba, Argentina
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关键词: Congenital hearing loss congenital sensorineuralhearing loss cytomegalovirus GJB2 genetic hearing loss etiology

摘要:
In cases of congenital sensorineural hearing loss, testing for genetic etiologies and congenital cytomegalovirus (cCMV) infection have become common practice.The purpose of this study is to determine which specific testing methodologies should be used and when.We surveyed 20 practicing otolaryngologists across eighteen institutions in thirteen countries about their approach to cCMV, GJB2, and wider genetic testing.We found 90% of respondents employ all three tests, either in routine or special cases. cCMV testing is widely used, with 95% of respondents incorporating it into their clinical practice. GJB2 testing was employed by 90%. In cases with negative GJB2 test results, a majority of respondents proceeded to wider genetic screening. Test reimbursement was also examined for each test. For cCMV testing, 63.1% reported reimbursement, 68.4% reported reimbursement for GJB2 variant testing and 52.6% reported reimbursement for wider genetic screening.A common approach is to perform cCMV and GJB2 testing as the first tests, followed by wider genetic testing. This study offers insight into the prevalence, methodologies, and reimbursement status of these testing methodologies across multiple hearing centers and countries. Current consensus and future directions are described based on the current survey.

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出版当年[2023]版:
大类 | 4 区 医学
小类 | 4 区 耳鼻喉科学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 耳鼻喉科学
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出版当年[2022]版:
Q4 OTORHINOLARYNGOLOGY
最新[2023]版:
Q3 OTORHINOLARYNGOLOGY

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第一作者机构: [a]Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
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