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• W2969350068 abstract "The 243rd ENMC workshop met in Amsterdam, The Netherlands in March 2019 to discuss current perspectives and knowledge in reproductive options in patients with mtDNA-related mitochondrial disease. The 29 participants came from The Netherlands, UK, France, Germany, Spain, Austria, Belgium, Australia, USA and Brazil, and was multi-disciplinary, including patients, clinicians, basic scientists, ethicists, a sociologist, and representatives of industry and patient organizations (including the Lily Foundation, the Dutch Muscular Disease Association, International Mito Patients (IMP) and the LHON group of the Dutch Eye Association). Genetic counselling is uniquely complicated in mitochondrial diseases, and the ENMC has played an important role in developing consensus guidelines for reproductive options [1Poulton J. Bredenoord A. 174th ENMC international workshop: applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, the Netherlands.Neuromuscul Disord. 2010; 20: 559-563Abstract Full Text Full Text PDF PubMed Scopus (31) Google Scholar, 2Poulton J. Turnbull D.M. 74th ENMC international workshop: mitochondrial diseases 19-20 November 1999, Naarden, the Netherlands.Neuromuscul Disord. 2000; 10: 460-462Abstract Full Text Full Text PDF PubMed Scopus (58) Google Scholar]. As molecular characterisation has become routine, more options have become available. Pre-implantation genetic diagnosis (PGD, where routinely 1–5 cells are sampled from a pre-implantation embryo) is now robust and safety is established [[3]Steffann J. Monnot S. Bonnefont J.P. mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.Clin Genet. 2015; 88: 416-424Crossref PubMed Scopus (19) Google Scholar] for maternally inherited mtDNA disease, albeit that data remains relatively limited. Furthermore, great strides have been made in mitochondrial replacement therapy (MRT) [4Kang E. et al.Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations.Nature. 2016; 540: 270-275Crossref PubMed Scopus (186) Google Scholar, 5Hyslop L.A. et al.Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.Nature. 2016; 534: 383-386Crossref PubMed Scopus (203) Google Scholar]. In MRT the nucleus is removed from either a zygote (pronuclear transfer, PNT) or an oocyte (maternal spindle transfer, MST) and placed into a corresponding enucleated cell at the same stage, but from a donor with normal mitochondria. These techniques are being applied to a range of disorders beyond the purely mitochondrial, in which some investigators believe that cytoplasmic transfer [6Cohen J. Scott R. Schimmel T. Levron J. Willadsen S. Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs.Lancet. 1997; 350: 186-187Abstract Full Text Full Text PDF PubMed Scopus (292) Google Scholar, 7Labarta E. et al.Autologous mitochondrial transfer as a complementary technique to intracytoplasmic sperm injection to improve embryo quality in patients undergoing in vitro fertilization-a randomized pilot study.Fertil Steril. 2019; 111: 86-96Abstract Full Text Full Text PDF PubMed Scopus (50) Google Scholar] is useful for regeneration of poor quality oocytes. Patients are enthusiastic for these new options, but need appropriate, informed counselling regarding the risks and benefits of novel techniques such as MRT where clinical experience is limited. In the UK the HFEA have established a rigorous regulatory framework, with a detailed case-by-case review process for each MRT application. This consensus document is a response to the pressing need for internationally agreed guidelines on referral and counselling of couples seeking advice on assisted reproductive options for mtDNA disease." @default.
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• W2969350068 date "2019-09-01" @default.
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• W2969350068 title "243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019" @default.
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• W2969350068 doi "https://doi.org/10.1016/j.nmd.2019.08.004" @default.
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