This paper aims to address the ethical issues regarding prenatal diagnosis and
preimplantation genetic diagnosis (PGD) of mitochondrial disorders. Owing to the absence …

Although morally acceptable in theory, preimplantation genetic diagnosis (PGD) for
mitochondrial DNA (mtDNA) disorders raises several ethical questions in clinical practice …

Mitochondrial disorders are among the most common inborn errors of metabolism; at least
15% are caused by mitochondrial DNA (mtDNA) mutations, which occur de novo or are …

Mitochondrial disorders represent the most common group of inborn errors of metabolism.
Clinical manifestations can be extremely variable, ranging from single affected tissues to …

Background Mitochondrial or oxidative phosphorylation diseases are relatively frequent,
multisystem disorders; in about 15% of cases they are caused by maternally inherited …

OBJECTIVE: To evaluate the utility of trophectoderm biopsy for preimplantation genetic
diagnosis (PGD) of mitochondrial (mt) DNA mutation load. DESIGN: A PGD case and …

Purpose Preimplantation genetic testing (PGT) has become a reliable tool for preventing the
germline transmission of mitochondrial DNA (mtDNA) variants. However, procedures are not …

STUDY QUESTION What is the reliability of preimplantation genetic diagnosis (PGD) based
on polar body (PB), blastomere or trophectoderm (TE) analysis in a heteroplasmic …

While the fertilized egg inherits its nuclear DNA from both parents, the mitochondrial DNA is
strictly maternally inherited. Cells contain multiple copies of mtDNA, each of which encodes …

Steffann et al.(2014) highlight significant differences in predicting the transmission of
mitochondrial DNA (mtDNA) mutations by preimplantation genetic diagnosis (PGD) in …