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A case‐comparison study of pregnant women with mitochondrial disease – what to expect?

Lookup NU author(s): Catherine Feeney, Dr Albert Lim, Dr Alasdair Blain, Alexandra Bright, Professor Robert Taylor, Professor Grainne Gorman, Emeritus Professor Doug Turnbull, Dr Victoria Nesbitt, Professor Bobby McFarlandORCiD



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


© 2019 The Authors. BJOG: An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd on behalf of Royal College of Obstetricians and Gynaecologists Objective: Mitochondrial disease is a disorder of energy metabolism that affects 1 in 4300 adults in the UK. Pregnancy is associated with physiological demands that have implications for energy metabolism. We were interested to know how pregnancy was affected in women with mitochondrial disease, particularly those with the most common pathogenic mutation m.3243A>G. Design: Retrospective case-comparison study. Population/Setting: Sixty-seven women with genetically confirmed mitochondrial disease from the UK Mitochondrial Diseases Cohort and 69 unaffected women participated. Methods: Participants answered questionnaires regarding each of their pregnancies. Patients were divided into two groups according to genetic mutation, with those harbouring m.3243A>G comprising a single group. Main outcome measures: Pregnancy-related complications, mode of delivery, gestational age and birthweight of newborns. Results: Of 139 live births in the comparison group, 62 were in the m.3243A>G group and 87 were in the ‘all other mutations’ group. Pregnancies of women with the m.3243A>G mutation had significantly more gestational diabetes [odds ratio (OR) = 8.2, 95% CI 1.3–50.1], breathing difficulties (OR = 7.8, 95% CI 1.0–59.1) and hypertension (OR = 8.2, 95% CI 3.1–21.5) than the comparison group. Only half of the pregnancies in the m.3243A>G group had normal vaginal delivery, with emergency caesarean section accounting for 24.2% of deliveries. Babies were born significantly earlier to mothers harbouring m.3243A>G with 53.3% of them preterm (<37 weeks). These babies were also more likely to require resuscitation and admission. Conclusion: Women who carried the m.3243A>G mutation appeared to be at higher risk of complications during pregnancies, caesarean section and preterm delivery than the unaffected women or those with other forms of mitochondrial disease. Tweetable abstract: Pregnant women with mitochondrial disease – m.3243A>G mutation – are at greatly increased risk of complications and preterm delivery.

Publication metadata

Author(s): Feeney CL, Lim AZ, Fagan E, Blain A, Bright A, Maddison J, Devine H, Stewart J, Taylor RW, Gorman GS, Turnbull DM, Nesbitt V, McFarland R

Publication type: Article

Publication status: Published

Journal: BJOG: An International Journal of Obstetrics and Gynaecology

Year: 2019

Volume: 126

Issue: 11

Pages: 1380-1389

Print publication date: 01/10/2019

Online publication date: 24/02/2019

Acceptance date: 19/02/2019

Date deposited: 13/09/2019

ISSN (print): 1470-0328

ISSN (electronic): 1471-0528

Publisher: Wiley-Blackwell


DOI: 10.1111/1471-0528.15667


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Funder referenceFunder name
203105/Z/16/ZWellcome Trust