{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T14:17:46Z","timestamp":1783952266696,"version":"3.55.0"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T00:00:00Z","timestamp":1672272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Numerous diseases and disorders are associated with mitochondrial DNA (mtDNA) mutations, among which m.1555A\u2009&gt;\u2009G and m.1494C\u2009&gt;\u2009T mutations in the 12\u2009S ribosomal RNA gene contribute to aminoglycoside\u2010induced and nonsyndromic hearing loss worldwide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 76,842 qualified non\u2010invasive prenatal (NIPT) samples were subjected to mtDNA mutation and haplogroup analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We detected 181\u2009m.1555A\u2009&gt;\u2009G and m.1494C\u2009&gt;\u2009T mutations, 151 of which were subsequently sequenced for full\u2010length mitochondrial genome verification. The positive predictive values for the m.1555A\u2009&gt;\u2009G and m.1494C\u2009&gt;\u2009T mutations were 90.78% and 90.00%, respectively, a performance comparable to that attained with newborn hearing screening. Furthermore, mitochondrial haplogroup analysis revealed that the <jats:italic>12\u2009S rRNA<\/jats:italic> 1555A\u2009&gt;\u2009G mutation was enriched in sub\u2010haplotype D5[<jats:italic>p<\/jats:italic>\u00a0=\u00a00, OR\u00a0=\u00a04.6706(2.81\u20137.78)].<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings indicate that the non\u2010invasive prenatal testing of cell\u2010free DNA obtained from maternal plasma can successfully detect m.1555A\u2009&gt;\u2009G and m.1494C\u2009&gt;\u2009T mutations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24827","type":"journal-article","created":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T09:39:50Z","timestamp":1672306790000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5166-5756","authenticated-orcid":false,"given":"Quanfei","family":"Huang","sequence":"first","affiliation":[{"name":"Institute of Clinical Pharmacology, School of Pharmaceutical Sciences Sun Yat\u2010Sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanhui","family":"Liu","sequence":"additional","affiliation":[{"name":"Dongguan Maternal and Child Health Hospital  Dongguan China"},{"name":"Dongguan maternal and Child Health Hospital Affiliated to Southern Medical University  Dongguan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Lei","sequence":"additional","affiliation":[{"name":"CapitalBio Genomics Co., Ltd.  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