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

Author:

Hui Lisa1234ORCID,Hayman Pema5ORCID,Buckland Ali6,Fahey Michael C7ORCID,Mackey David A8ORCID,Mallett Andrew J5910ORCID,Schweitzer Daniel R111213,Stuart Clare P14ORCID,Yau Wai Yan6ORCID,Christodoulou John15ORCID

Affiliation:

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

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.

Funder

University of Melbourne

Royal Children's Hospital Foundation

Murdoch Children's Research Institute

Publisher

Wiley

Reference42 articles.

1. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

2. Mito Foundation.Understanding mito. Accessed December 20 2023.https://www.mito.org.au/about‐mito/mitochondrial‐disease/.

3. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

4. Mitochondrial Donation Law Reform (Maeve's Law) Bill.2021.

5. Mitochondrial donation. Updated 02/02/2021. Accessed 11 February 2024.https://www.newcastle‐hospitals.nhs.uk/services/fertility‐treatment/mitochondrial‐donation/

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