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
mitochondrial diseases, especially those due to
mtDNA mutations, provides unique and difficult challenges particularly in relation to disease transmission and prevention. We have experienced an increasing demand for prenatal diagnostic testing from families affected by
mitochondrial disease since we first offered this service in 2007. We review the diagnostic records of the 62 prenatal samples (17
mtDNA and 45 nDNA) analysed since 2007, the reasons for testing, mutation investigated and the clinical outcome. Our findings indicate that prenatal testing for
mitochondrial disease is reliable and informative for the nuclear and selected
mtDNA mutations we have tested. Where available, the results of
mtDNA heteroplasmy analyses from other family members are helpful in interpreting the prenatal
mtDNA test result. This is particularly important when the mutation is rare or the
mtDNA heteroplasmy is observed at intermediate levels. At least 11 cases of
mitochondrial disease were prevented following prenatal testing, 3 of which were
mtDNA disease. On the basis of our results, we believe that prenatal testing for
mitochondrial disease is an important option for couples where appropriate genetic analyses and pre/post-test counselling can be provided.