{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T00:47:20Z","timestamp":1744937240586,"version":"3.37.3"},"reference-count":9,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Perinatol"],"published-print":{"date-parts":[[2025,1]]},"abstract":"\n Objective\u2003This study aimed to determine the prevalence and heteroplasmy level(s) of MT-RNR1 variants m.1555A\u2009>\u2009G and m.1494C\u2009>\u2009T, which are associated with aminoglycoside-induced hearing loss, in a general perinatal population. This study also aimed to characterize the association of these variants and their heteroplasmy levels with hearing loss outcomes with and without aminoglycoside exposure.<\/jats:p>\n Study Design\u2003Droplet digital polymerase chain reaction was performed on 479 maternal DNA samples from a general perinatal biobank at our institution to detect the presence and heteroplasmy levels of MT-RNR1 variants m.1555A\u2009>\u2009G and m.1494C\u2009>\u2009T. Testing of paired neonatal specimen(s) was planned for positive maternal tests. A retrospective chart review was performed to characterize the population, identify aminoglycoside exposures, and determine hearing outcomes.<\/jats:p>\n Results\u2003All maternal samples tested negative for MT-RNR1 variants m.1555A\u2009>\u2009G and m.1494C\u2009>\u2009T. Maternal and neonatal subjects had high rates of aminoglycoside exposure (15.9 and 13.9%, respectively). No subjects with sensorineural or mixed hearing loss had documented aminoglycoside exposure.<\/jats:p>\n Conclusion\u2003This study demonstrated that a larger sample size is needed to establish the prevalence of these variants as no subjects tested positive. Determination of variant prevalence in the neonatal population, association of variant heteroplasmy levels with hearing outcomes, and reliability of maternal testing as a surrogate for neonatal testing are important next steps toward universal prenatal or newborn screening.<\/jats:p>\n Key Points\n <\/jats:p>","DOI":"10.1055\/s-0044-1788335","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T22:49:31Z","timestamp":1721083771000},"page":"126-129","source":"Crossref","is-referenced-by-count":1,"title":["Assessment of Aminoglycoside-Induced Hearing Loss Risk in the Perinatal Period"],"prefix":"10.1055","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5148-6379","authenticated-orcid":false,"given":"Whitney S.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Division of Neonatal Medicine, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7832-410X","authenticated-orcid":false,"given":"Leslie","family":"Saba","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Hasadsri","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Girard","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Department of Immunology, Mayo Clinic, Rochester, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Department of Otorhinolaryngology, Head and Neck Surgery, Department of Ophthalmology, Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen M.","family":"Bendel-Stenzel","sequence":"additional","affiliation":[{"name":"Division of Neonatal Medicine, Mayo Clinic, Rochester, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myra J.","family":"Wick","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1078-3320","authenticated-orcid":false,"given":"Jane E.","family":"Brumbaugh","sequence":"additional","affiliation":[{"name":"Division of Neonatal Medicine, Mayo Clinic, Rochester, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,7,15]]},"reference":[{"first-page":"1993","volume-title":"Nonsyndromic hearing loss and deafness, mitochondrial","author":"S I Usami","key":"ref1"},{"issue":"05","key":"ref2","first-page":"CD013837","article-title":"Antibiotic regimens for early-onset neonatal sepsis","volume":"5","author":"S K Korang","year":"2021","journal-title":"Cochrane Database Syst Rev"},{"issue":"06","key":"ref3","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1002\/lary.21778","article-title":"The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population","volume":"121","author":"M Ealy","year":"2011","journal-title":"Laryngoscope"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1002\/ppul.26259","article-title":"Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: the utility of large-scale screening","volume":"58","author":"J Lopes","year":"2023","journal-title":"Pediatr Pulmonol"},{"issue":"05","key":"ref5","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1001\/jamapediatrics.2022.0187","article-title":"Rapid point-of-care genotyping to avoid aminoglycoside-induced ototoxicity in neonatal intensive care","volume":"176","author":"J H McDermott","year":"2022","journal-title":"JAMA Pediatr"},{"issue":"05","key":"ref6","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1097\/00125817-200209000-00004","article-title":"Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?","volume":"4","author":"H Y Tang","year":"2002","journal-title":"Genet Med"},{"issue":"06","key":"ref7","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1056\/NEJMc0806397","article-title":"Prevalence of mitochondrial 1555A\u2013>G mutation in adults of European descent","volume":"360","author":"H Vandebona","year":"2009","journal-title":"N Engl J Med"},{"issue":"15","key":"ref8","doi-asserted-by":"crossref","first-page":"8919","DOI":"10.1021\/acs.analchem.8b01096","article-title":"Noninvasive and accurate detection of hereditary hearing loss mutations with buccal swab based on droplet digital PCR","volume":"90","author":"F Wang","year":"2018","journal-title":"Anal Chem"},{"issue":"05","key":"ref9","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1136\/archdischild-2022-324331","article-title":"Cumulative risk factors contributing to hearing loss in preterm infants","volume":"108","author":"K Chant","year":"2023","journal-title":"Arch Dis Child Fetal Neonatal Ed"}],"container-title":["American Journal of Perinatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0044-1788335.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T23:32:37Z","timestamp":1735083157000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0044-1788335"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,15]]},"references-count":9,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2024,12,24]]},"published-print":{"date-parts":[[2025,1]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0044-1788335","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0735-1631","1098-8785"],"issn-type":[{"type":"print","value":"0735-1631"},{"type":"electronic","value":"1098-8785"}],"subject":[],"published":{"date-parts":[[2024,7,15]]}}}