{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T03:07:24Z","timestamp":1740107244543,"version":"3.37.3"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T00:00:00Z","timestamp":1682294400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T00:00:00Z","timestamp":1682294400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universit\u00e4tsklinikum Freiburg"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur Arch Otorhinolaryngol"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Introduction<\/jats:title>\n                <jats:p>The most common sensorineural disorder in humans is hearing impairment and approximately 60% of prelingual hearing disorders are genetic. Especially parents with a congenital deaf child want to know as early as possible whether their second born child has the same genetic defect or not. The aim of this study is to demonstrate that postnatal genetic umbilical cord analysis is both the earliest detection possibility and sufficient.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We included first born children with severe hearing impairment that underwent cochlear implantation. All included patients were analyzed genetically and exhibited mutations of either DFNB1 loci or SLC26A4 gene. Additionally, the umbilical cord of the sibling underwent genetic analysis to detect hereditary genetic mutations as early as possible.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>49 newborn children out of 22 families were included in this study. Genetic analysis revealed clinical relevant mutations in all first born children and in four siblings via umbilical cord analysis. All patients who have been diagnosed with a relevant genetic mutation that caused severe hearing impairment underwent hearing rehabilitation via cochlear implant surgery.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This study demonstrates the sufficient and early as possible detection of known genetically hearing disorders via umbilical cord analysis. In case of a known familial genetic hearing disorder, it is advisable to analyze newborn siblings for the corresponding genetic defect as soon as possible, to be able to plan and initiate clinical care for the patient as early as possible. It is also extremely important for the parents to obtain clear information about the auditory status of the newborn.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00405-023-07986-y","type":"journal-article","created":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T11:02:35Z","timestamp":1682334155000},"page":"4811-4817","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Postnatal genetic umbilical cord analysis for earliest possible detection of inherited hearing impairment"],"prefix":"10.1007","volume":"280","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0391-6607","authenticated-orcid":false,"given":"Manuel Christoph","family":"Ketterer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Birkenh\u00e4ger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer","family":"Beck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Arndt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antje","family":"Aschendorff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirjam","family":"Kunze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,4,24]]},"reference":[{"key":"7986_CR1","unstructured":"Smith RJH, Jones MKN (2016) Nonsyndromic Hearing Loss and Deafness, DFNB1. 1998 Sep 28 [updated 2016 Aug 18]. 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Antje Aschendorff received travelling expenses and financial support for research from Cochlear Ltd, Australia; financial support for research and travelling expenses from Med-El, Innsbruck, Austria; financial support for research and travelling expenses from Oticon Inc., Somerset, NJ; financial support for research and travelling expenses from Advanced Bionics, Valencia, CA, USA. Susan Arndt received financial support for research and travelling expenses from Cochlear Ltd, Australia; financial support for research and travelling expenses from Med-El, Innsbruck, Austria travelling expenses from Advanced Bionics, Valencia, CA, USA; financial support for research and travelling expenses from Oticon Inc., Somerset, NJ. This study is not sponsored by industry.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"No.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Research involving human participants"}}]}}