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A systematic review of mitochondrial disease in pregnancy
  1. RE Say,
  2. RG Whittaker,
  3. HE Turnbull,
  4. R McFarland,
  5. RW Taylor,
  6. DM Turnbull
  1. Newcastle University, Newcastle upon Tyne, UK


Background 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.

Methods The authors undertook a systematic review of the literature on mitochondrial disease in pregnancy.

Results Ten case reports were identified. The most common complications were threatened preterm labour (five women) and pre-eclampsia (four 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.

Discussion Women with mitochondrial disease appear to be at increased risk of complications during pregnancy and labour but further prospective cohort studies are needed.

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