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

BJOG : an International Journal of Obstetrics and Gynaecology
Catherine L FeeneyRobert McFarland

Abstract

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. Retrospective case-comparison study. Sixty-seven women with genetically confirmed mitochondrial disease from the UK Mitochondrial Diseases Cohort and 69 unaffected women participated. 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. Pregnancy-related complications, mode of delivery, gestational age and birthweight of newborns. 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 pregnancie...Continue Reading

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Citations

Nov 8, 2020·Annals of Clinical and Translational Neurology·Pauline PappalardoAgathe Roubertie
Jun 20, 2021·Lancet Neurology·Yi Shiau NgDoug M Turnbull
Jun 26, 2021·Human Molecular Genetics·Tiago M Bernardino GomesAmy E Vincent
Oct 14, 2021·Endocrine Reviews·Yi Shiau NgMark Walker

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BETA
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