Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.

Quanfei Huang,Yanhui Liu,Wei Lei,Jiajie Liang,Yang Wang, Minhua Zheng, Xiaoyan Huang,Yuanru Liu,Kaisheng Huang,Min Huang

Journal of clinical laboratory analysis（2023）

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摘要

Our findings indicate that the non-invasive prenatal testing of cell-free DNA obtained from maternal plasma can successfully detect m.1555A > G and m.1494C > T mutations.

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关键词

PPV,mitochondrial DNA (mtDNA),newborn hearing screening (NBHS),noninvasive prenatal testing (NIPT),secondary finding

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