Feeney, CL;
Lim, A;
Fagan, E;
Blain, A;
Bright, A;
Maddison, J;
Devine, H;
... McFarland, R; + view all
(2019)
A case-comparison study of pregnant women with mitochondrial disease - what to expect.
BJOG: An International Journal of Obstetrics & Gynaecology
10.1111/1471-0528.15667.
(In press).
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Abstract
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: 67 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' groups. Pregnancies of women with m.3243A>G mutation had significantly more gestational diabetes (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 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. This article is protected by copyright. All rights reserved.
| Type: | Article |
|---|---|
| Title: | A case-comparison study of pregnant women with mitochondrial disease - what to expect |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/1471-0528.15667 |
| Publisher version: | https://doi.org/10.1111/1471-0528.15667 |
| Language: | English |
| Additional information: | © 2019 The Authors. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | MTTL1, Mitochondrial disease, birthweight, breathing difficulties, gestation, gestational diabetes, hypertension, m.3243A>G, mitochondria, pregnancy, pregnant women with mitochondrial disease |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10069952 |
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