Pregnancy in women with mitochondrial disease-A literature review and suggested guidance for preconception and pregnancy care

Lisa Hui; Pema Hayman; Ali Buckland; Michael C Fahey; David A Mackey; Andrew J Mallett; Daniel R Schweitzer; Clare P Stuart; Wai Yan Yau; John Christodoulou

doi:10.1111/ajo.13874

Pregnancy in women with mitochondrial disease-A literature review and suggested guidance for preconception and pregnancy care

Aust N Z J Obstet Gynaecol. 2024 Sep 11. doi: 10.1111/ajo.13874. Online ahead of print.

Authors

Lisa Hui^{1

2

3

4}, Pema Hayman⁵, Ali Buckland⁶, Michael C Fahey⁷, David A Mackey⁸, Andrew J Mallett^{5

9

10}, Daniel R Schweitzer^{11

12

13}, Clare P Stuart¹⁴, Wai Yan Yau⁶, John Christodoulou¹⁵

Affiliations

¹ Department of Obstetrics, Gynaecology and Newborn Health, University of Melbourne, Melbourne, Victoria, Australia.
² Reproductive Epidemiology Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
³ Department of Perinatal Medicine, Mercy Hospital for Women, Melbourne, Victoria, Australia.
⁴ Department of Obstetrics and Gynaecology, The Northern Hospital, Melbourne, Victoria, Australia.
⁵ College of Medicine and Dentistry, James Cook University, Cairns, Queensland, Australia.
⁶ Department of Neurology, Perron Institute for Neurological and Translational Science, Perth, Western Australia, Australia.
⁷ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
⁸ Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
⁹ Department of Renal Medicine, Townsville University Hospital, Townsville, Queensland, Australia.
¹⁰ Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
¹¹ Department of Neurology, Mater Hospital, Brisbane, Queensland, Australia.
¹² Wesley Hospital, Brisbane, Queensland, Australia.
¹³ Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.
¹⁴ Mito Foundation, Sydney, New South Wales, Australia.
¹⁵ Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

PMID: 39258766
DOI: 10.1111/ajo.13874

Abstract

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. We conducted a systematic literature review on mitochondrial disease in pregnancy; five cohort studies and 19 case reports were included. For many women with mitochondrial disease, pregnancy does not have a negative effect on health status. However, serious adverse outcomes may occur. We provide suggested guidelines for preconception counselling and antenatal care.

Keywords: assisted reproductive techniques; genetics; mitochondrial disease; pregnancy; pregnancy complications.

© 2024 The Author(s). Australian and New Zealand Journal of Obstetrics and Gynaecology published by John Wiley & Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

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