Ms Pema Hayman1, Professor Lisa Hui2,3,4,5, Dr Ali Buckland6, Prof Michael Fahey7, Prof David Mackey8, Prof Andrew Mallett1,9,10, Dr Daniel Schweitzer11,12,13, Ms Clare Stuart14, Dr Wai Yan Yau15, Prof John Christodoulou16
1College of Medicine and Dentistry, James Cook University, Townsville, Australia, 2Reproductive Epidemiology Group, Murdoch Children’s Research Institute, Melbourne, Australia, 3Department of Obstetrics and Gynaecology, The Northern Hospital, Epping, Australia, 4Department of Obstetrics, Gynecology and Newborn Health, University of Melbourne, Parkville, Australia, 5Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Australia, 6Department of Neurology, Perron Institute for Neurological and Translational Science, Perth, Australia, 7Department of Paediatrics, Monash University, Clayton, Australia, 8Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Australia, 9Department of Renal Medicine, Townsville University Hospital, Townsville, Australia, 10Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia, 11Department of Neurology, Mater Hospital, South Brisbane, Australia, 12Wesley Hospital, Auchenflower, Australia, 13Faculty of Medicine, University of Queensland, Brisbane, Australia, 14Mito Foundation, Sydney, Australia, 15Perron Institute for Neurological and Translational Science, University of Western Australia, Nedlands, Australia, 16Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia
Biography:
biographies to come
Abstract:
Background: Mitochondrial donation to reduce the risk of primary mitochondrial disease transmission from mother to child is now permitted under Australian law as part of a clinical trial. The energy demands of pregnancy have the potential to worsen mitochondrial disease symptoms and severity in affected women. Australia is preparing to commence its first clinical trial of mitochondrial donation in the MitoHOPE study, funded by the Medical Research Future Fund. In this paper, we summarised the literature on maternal and perinatal outcomes in people with mitochondrial disorders to inform clinical care.
Methods: We conducted a systematic literature search of MEDLINE for original research studies and case reports that reported maternal and perinatal outcomes in women with a pre-pregnancy diagnosis of a mitochondrial disorder. English language studies published since 2000 were included.
Results: Five retrospective cohort studies (with a combined total of 322 women) and 19 case reports (reporting 21 pregnancy outcomes) were included. Overall, most women with mitochondrial disease in the cohort studies tolerated pregnancy well, although exacerbations of gastrointestinal, constitutional, and muscular symptoms were common. Self-reported pregnancy-related complication rates in the cohort studies varied widely: 2–16% for gestational diabetes, 5–36% for hypertensive disorders of pregnancy and 9–53% for preterm birth. The case reports described individual instances of serious adverse events for both mother (status epilepticus, respiratory failure, cardiac deterioration, severe pain, immobilisation) and infant (stillbirth, preterm birth).
Conclusion: For many women with mitochondrial disease, pregnancy does not have a negative effect on health status. However, serious adverse outcomes may occur. Pre-pregnancy and pregnancy care should be provided by a multidisciplinary team with appropriate expertise. We provide suggested guidelines for preconception counselling and antenatal care.
Keywords
Pregnancy, mitochondrial disease, genetics