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A national perspective on prenatal testing for rnitochondrial disease

Lookup NU author(s): Dr Victoria Nesbitt, Dr Charlotte Alston, Emeritus Professor Doug Turnbull, Professor Robert Taylor, Professor Bobby McFarlandORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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.

Publication metadata

Author(s): Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2014

Volume: 22

Issue: 11

Pages: 1255-1259

Print publication date: 01/11/2014

Online publication date: 19/03/2014

Acceptance date: 16/01/2014

Date deposited: 19/02/2015

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/ejhg.2014.35


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Funder referenceFunder name
HEFCE/Department of Health Clinical Senior Lectureship
NIHR doctoral research fellowship
906919Wellcome Trust Strategic Award
G0601943MRC Centre for Neuromuscular Diseases
G0800674Medical research Council Mitochondrial Disease Patient Cohort Study UK
096919/Z/11/ZWellcome Trust