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遗传学和医学辅助生殖技术的最新进展:从研究到临床应用。

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

机构信息

Institute for Women's Health, University College London, London, UK.

Laboratory of Genetics, Helsinki University Hospital, Helsinki, Finland.

出版信息

Eur J Hum Genet. 2018 Jan;26(1):12-33. doi: 10.1038/s41431-017-0016-z. Epub 2017 Dec 4.

Abstract

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.

摘要

两个领先的欧洲专业学会,欧洲人类遗传学会和欧洲人类生殖与胚胎学会,自 2004 年以来一直合作,评估辅助生殖和遗传学领域快速研究进展的影响,包括将其应用于临床实践。2016 年 9 月,专家小组第三次开会。讨论的议题突出了涵盖扩大携带者筛查、直接面向消费者的基因检测、通过先进的基因检测排除配子供体假定匿名性、男性和女性不孕遗传原因研究进展、在植入前遗传检测和非侵入性产前筛查中大规模平行测序的应用、人类卵母细胞中的线粒体置换,以及另外与体外受精和种系基因组编辑后跨代表观遗传遗传相关的问题。产生的论文代表了所涉及的两个专业学会的共识。

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Pregnancy outcomes after assisted human reproduction.人类辅助生殖后的妊娠结局
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Human germline gene editing: Recommendations of ESHG and ESHRE.人类生殖细胞系基因编辑:ESHRE 和 ESHG 的建议。
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引用本文的文献

本文引用的文献

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Noninvasive Prenatal Testing - When Is It Advantageous to Apply.无创产前检测——何时应用具有优势。
Biomed Hub. 2017 Mar 4;2(1):1-11. doi: 10.1159/000458432. eCollection 2017 Jan-Apr.
2
Correction of a pathogenic gene mutation in human embryos.人类胚胎中致病基因突变的纠正。
Nature. 2017 Aug 24;548(7668):413-419. doi: 10.1038/nature23305. Epub 2017 Aug 2.
3
Human Germline Genome Editing.人类种系基因组编辑
Am J Hum Genet. 2017 Aug 3;101(2):167-176. doi: 10.1016/j.ajhg.2017.06.012.
4
The International Glossary on Infertility and Fertility Care, 2017.《国际不孕不育和生育保健词汇表》,2017 年。
Fertil Steril. 2017 Sep;108(3):393-406. doi: 10.1016/j.fertnstert.2017.06.005. Epub 2017 Jul 29.

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