Paren met risico op een kind met een mitochondriële ziekte

Mitochondrial diseases are the most common inborn errors of metabolism. These severe multisystem disorders cause serious morbidity and mortality. Generally no treatment is available. This underlines the importance of counseling about the reproductive options to prevent the transmission of mitochondrial disorders. The majority of mitochondrial disorders is caused by a defect in a nuclear gene, in which cases the standard reproductive options can be applied, such as prenatal diagnosis (PND) and preimplantation genetic testing (PGT). For mitochondrial disorders caused by a mitochondrial DNA (mtDNA) mutation, reproductive options are determined by the recurrence risk, requiring specific reproductive counseling. For de novomtDNA mutations and inherited mtDNA mutations with a low recurrence risk, PND is possible. In case of a moderate or higher recurrence risk, PGT is the best option. In case the risk of a healthy embryo is (very) low, mitochondrial replacement therapy (MRT) may be a possibility in the future.