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Mitochondrial disease in pregnancy: a systematic review

Lookup NU author(s): Rebecca Say, Professor Roger Whittaker, Professor Bobby McFarlandORCiD, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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Mitochondrial diseases are heterogeneous in clinical presentation and genotype. The incidence of known pathogenic mitochondrial DNA mutations in the general population is 1 in 500. Little is known about the implications of pregnancy for women with mitochondrial disease. We undertook a systematic review of the literature on mitochondrial disease in pregnancy. Ten case reports were identified. The most common complications were threatened preterm labour (5 women) and preeclampsia (4 women). Two women experienced magnesium sulphate toxicity. Pregnancy had a varied effect on mitochondrial disease with some women being asymptomatic; others developing mild symptoms such as exercise intolerance or muscle weakness which resolved postnatally; and others developed more serious, persistent symptoms such as symptomatic Wolff–Parkinson–White syndrome, persistent paraesthesia and focal segmental glomerulosclerosis. Women with mitochondrial disease appear to be at increased risk of complications during pregnancy and labour but further prospective cohort studies are needed.

Publication metadata

Author(s): Say RE, Whittaker RG, Turnbull HE, McFarland R, Taylor RW, Turnbull DM

Publication type: Review

Publication status: Published

Journal: Obstetric Medicine

Year: 2011

Volume: 4

Issue: 3

Pages: 90-94

Print publication date: 23/06/2011

ISSN (print): 1753-495X

ISSN (electronic): 1753-4968


DOI: 10.1258/om.2011.110008