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Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy.

Fertility and sterility - 1 Jun 2021

Spath Katharina, Babariya Dhruti, Konstantinidis Michalis, Lowndes Jo, Child Tim, Grifo James A, Poulton Joanna, Wells Dagan

Abstract excerpt

OBJECTIVE: To validate and apply a strategy permitting parallel preimplantation genetic testing (PGT) for mitochondrial DNA (mtDNA) disease and aneuploidy (PGT-A). DESIGN: Preclinical test validation and case reports. SETTING: Fertility centers. Diagnostics laboratory. PATIENTS: Four patients at risk of transmitting mtDNA disease caused by m.8993T>G (Patients A and B), m.10191T>G (Patient C), and m.3243A>G...

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PMID: 33745725
DOI: 10.1016/j.fertnstert.2021.01.026

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