遗传学与医学辅助生殖的最新进展：从研究到临床应用
Recent developments in genetics and medically-assisted reproduction: from research to clinical applications.
作者信息
Harper J C, Aittomäki K, Borry P, Cornel M C, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort A P A, Veiga A, Vermeesch J R, Viville S, Macek M
机构信息
Institute for Women's Health, University College London, 86-96 Chenies Mews, London WC1E 6HX, UK.
Laboratory of Genetics, Helsinki University Hospital, PO Box 720, FI-00029, Helsinki, Finland.
出版信息
Hum Reprod Open. 2017 Dec 4;2017(3):hox015. doi: 10.1093/hropen/hox015. eCollection 2017.
Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively-parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.
自2004年以来，欧洲两个主要的专业协会，即欧洲人类遗传学学会和欧洲人类生殖与胚胎学学会，一直携手合作，评估辅助生殖与遗传学交叉领域快速研究进展的影响，包括这些进展在临床实践中的应用。2016年9月，专家小组第三次召开会议。讨论的主题突出了一些重要问题，涵盖扩大携带者筛查、直接面向消费者的基因检测、先进基因检测使配子捐赠者假定的匿名性失效、男女不育症潜在遗传原因的研究进展、在植入前基因检测和无创产前筛查中使用大规模平行测序、人类卵母细胞中的线粒体替代，此外，还涉及体外受精和种系基因组编辑后的跨代表观遗传遗传相关问题。由此产生的论文代表了两个相关专业协会的共识。
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