European Journal of Human Genetics (2014) 22, 1255–1259; doi:10.1038/ejhg.2014.35; published online 19 March 2014

A national perspective on prenatal testing for mitochondrial disease

Victoria Nesbitt1, Charlotte L Alston2, Emma L Blakely2, Carl Fratter2,3, Catherine L Feeney2, Joanna Poulton2,4, Garry K Brown2,5, Doug M Turnbull1,2, Robert W Taylor1,2 and Robert McFarland1,2

  1. 1Wellcome Trust Centre for Mitochondrial Research, The Medical School, Institute for Ageing and Health, Newcastle University, Newcastle-upon-Tyne, UK
  2. 2NHS Specialised Services for Rare Mitochondrial Disorders of Adults and Children UK, Oxford, UK
  3. 3Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, UK
  4. 4Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, UK
  5. 5Department of Biochemistry, University of Oxford, Oxford, UK

Correspondence: Dr R McFarland, Wellcome Trust Centre for Mitochondrial Research, The Medical School, Institute for Ageing and Health, Newcastle University, Framlington Place, Newcastle-upon-Tyne, NE2 4HH, UK. Tel: +44 191 282 0340; Fax: +44 191 282 4373; E-mail:

Received 6 June 2013; Revised 17 December 2013; Accepted 16 January 2014
Advance online publication 19 March 2014



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.