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Mge01-022 | Non-invasive Prenatal MT-RNR1 Pharmacogenetic Testing for the Prevention of Aminoglycoside-Induced Profound Hearing Loss | |||||||
| Quote: | We report an innovative prenatal pharmacogenetic approach based on the parallel genome-wide analysis of mitochondrial and nuclear cell-free DNA which co-exist in routine non-invasive prenatal testing NIPT sequencing data. Following analysis of 5,529 NIPT cases, we reached to 99.3 cumulative call rate with100 sensitivity and specificity for the clinically actionable variants m.1095TC, m.1494CT and m.1555AG. Since NIPT is a globally adopted first and second-tier prenatal test, our approach could revolutionize early intervention strategies for aminoglycoside-induced hearing loss and improve clinical decision-making. | |||||||
| Abstract: | https://www.medrxiv.org/content/10.64898/2026.01.02.25343256v1 | |||||||
| Full Text: | https://www.medrxiv.org/content/10.64898/2026.01.02.25343256v1.full-text | |||||||
| Search Similar: | Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho | |||||||
| Search Authors: | Aspasia Destouni Benelote Uuskla Javier Lanillos Hindrek Teder Priit Paluoja Tuuli Metsvaht Cristina Rodriguez-Antona Andres Salumets Kaarel Krjutskov, | |||||||
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