Background Preimplantation genetic diagnosis (PGD) is a reproductive strategy for
mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected …

3Service de Biologie et Gé né tique de la Reproduction 4Service de Gyné cologie-
Obstetrique et Mé decine de la Reproduction, Unité INSERM U782 Hoˆ pital Antoine Bé …

Mitochondrial diseases affect> 1 in 7500 live births and may be due to mutations in either
mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Genetic counselling for families with …

BACKGROUND Mitochondrial disorders are often fatal multisystem disorders, partially
caused by heteroplasmic mitochondrial DNA (mtDNA) point mutations. Prenatal diagnosis is …

To perform preimplantation genetic diagnosis for women carrying heteroplasmic
mitochondrial DNA (mtDNA) mutations, it is necessary to ensure that the proportion of …

Objective To validate and apply a strategy permitting parallel preimplantation genetic testing
(PGT) for mitochondrial DNA (mtDNA) disease and aneuploidy (PGT-A). Design Preclinical …

Mitochondrial DNA (mtDNA) mutations are a relatively common cause of progressive
disorders that can be severe or even life-threatening. There is currently no cure for these …

Mitochondrial diseases require customized approaches for reproductive counseling,
addressing differences in recurrence risks and reproductive options. The majority of …

The aim of this review was to provide an evidence-based approach to frequently asked
questions relating to the risk of transmitting a maternally inherited mitochondrial disorder …

Mitochondria have their own DNA which is maternally inherited. Mitochondrial DNA (mtDNA)
diseases are extremely variable because of the genetics of mtDNA and the unique …