Point mutations (‘defects’) in mitochondrial DNA are inherited in a very specific way. They are inherited exclusively from the mother, and the mutation percentage in embryos or offspring can be highly variable. Generally speaking, the clinical picture cannot be reliably prognosticated on the basis of this mutation percentage. For these reasons, prenatal diagnosis is generally not recommended for female carriers of such mtDNA point mutations, as chances of their having a healthy baby are slim and there is a significant likelihood of obtaining poorly or non-interpretable results. Maastricht UMC+ has investigated the possibility of utilising PGD as an alternative screening method for the detection of mtDNA mutations in embryos. It is one of few centres in the world to offer PGD to screen for mtDNA mutations.
The available data suggest that PGD is currently the best reproductive option for most female carriers of mtDNA mutations who wish to have a healthy child. Since the amount of data available at present is limited, all new data published will be considered in this ongoing study.
Supervisors: prof. Christine de Die-Smulders, prof. Bert Smeets
Researcher: Suzanne Sallevelt, PhD