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人类植入前胚胎中嵌合现象的生物学及临床意义

Biological and Clinical Significance of Mosaicism in Human Preimplantation Embryos.

作者信息

Bouba Ioanna, Hatzi Elissavet, Ladias Paris, Sakaloglou Prodromos, Kostoulas Charilaos, Georgiou Ioannis

机构信息

Laboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.

IVF and Genetics Unit, Dept of Obstetrics and Gynecology, University Hospital of Ioannina, 45500 Ioannina, Greece.

出版信息

J Dev Biol. 2021 May 7;9(2):18. doi: 10.3390/jdb9020018.

DOI:10.3390/jdb9020018
PMID:34066950
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8162329/
Abstract

Applications and indications of assisted reproduction technology are expanding, but every new approach is under scrutiny and thorough consideration. Recently, groups of assisted reproduction experts have presented data that support the clinical use of mosaic preimplantation embryos at the blastocyst stage, previously excluded from transfer. In the light of published contemporary studies, with or without clinical outcomes, there is growing evidence that mosaic embryos have the capacity for further in utero development and live birth. Our in-depth discussion will enable readers to better comprehend current developments. This expansion into the spectrum of ART practices requires further evidence and further theoretical documentation, basic research, and ethical support. Therefore, if strict criteria for selecting competent mosaic preimplantation embryos for further transfer, implantation, fetal growth, and healthy birth are applied, fewer embryos will be excluded, and more live births will be achieved. Our review aims to discuss the recent literature on the transfer of mosaic preimplantation embryos. It also highlights controversies as far as the clinical utilization of preimplantation embryos concerns. Finally, it provides the appropriate background to elucidate and highlight cellular and genetic aspects of this novel direction.

摘要

辅助生殖技术的应用和适应症正在不断扩大,但每一种新方法都受到严格审查和全面考量。最近,一些辅助生殖专家小组公布的数据支持了囊胚期嵌合植入前胚胎的临床应用,这类胚胎此前被排除在移植范围之外。根据已发表的当代研究,无论有无临床结果,越来越多的证据表明,嵌合胚胎具有在子宫内进一步发育并实现活产的能力。我们的深入讨论将使读者更好地理解当前的进展。这种对辅助生殖技术实践范围的扩展需要更多的证据、进一步的理论论证、基础研究和伦理支持。因此,如果应用严格的标准来选择有能力的嵌合植入前胚胎进行进一步移植、着床、胎儿生长和健康分娩,将会有更少的胚胎被排除,从而实现更多的活产。我们的综述旨在讨论近期关于嵌合植入前胚胎移植的文献。它还突出了在植入前胚胎临床应用方面存在的争议。最后,它提供了适当的背景知识,以阐明和突出这一新颖方向的细胞和遗传方面。

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Biological and Clinical Significance of Mosaicism in Human Preimplantation Embryos.人类植入前胚胎中嵌合现象的生物学及临床意义
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本文引用的文献

1
Isn't it time to stop calling preimplantation embryos "mosaic"?是不是到了停止将植入前胚胎称为“嵌合体”的时候了?
F S Rep. 2020 Nov 4;1(3):164-165. doi: 10.1016/j.xfre.2020.10.009. eCollection 2020 Dec.
2
Pregnancy and Neonatal Outcomes after Transfer of Mosaic Embryos: A Review.嵌合胚胎移植后的妊娠及新生儿结局:综述
J Clin Med. 2021 Mar 27;10(7):1369. doi: 10.3390/jcm10071369.
3
Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use.利用一千例嵌合体胚胎移植的结局数据,制定用于临床的胚胎评分系统。
Fertil Steril. 2021 May;115(5):1212-1224. doi: 10.1016/j.fertnstert.2020.11.041. Epub 2021 Mar 6.
4
Prevalence, types and possible factors influencing mosaicism in IVF blastocysts: results from a single setting.体外受精囊胚镶嵌型的发生率、类型及可能影响因素:来自单一环境的研究结果。
Reprod Biomed Online. 2021 Jan;42(1):55-65. doi: 10.1016/j.rbmo.2020.09.025. Epub 2020 Oct 4.
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Do human embryos have the ability of self-correction?人类胚胎是否具有自我纠错能力?
Reprod Biol Endocrinol. 2020 Oct 6;18(1):98. doi: 10.1186/s12958-020-00650-8.
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Characteristics of the IVF Cycle that Contribute to the Incidence of Mosaicism.导致嵌合体发生的体外受精周期特征。
Genes (Basel). 2020 Sep 30;11(10):1151. doi: 10.3390/genes11101151.
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The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis.《镶嵌型胚胎移植的妊娠结局:一项前瞻性多中心研究及荟萃分析》。
Genes (Basel). 2020 Aug 21;11(9):973. doi: 10.3390/genes11090973.
8
Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion.囊胚种植前非整倍体遗传学检测(PGT-A)镶嵌结果的临床处理:委员会意见。
Fertil Steril. 2020 Aug;114(2):246-254. doi: 10.1016/j.fertnstert.2020.05.014.
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Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism.人类胚胎的单细胞分析揭示了非整倍体和镶嵌型的多种模式。
Genome Res. 2020 Jun;30(6):814-825. doi: 10.1101/gr.262774.120. Epub 2020 Jul 8.
10
ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations.欧洲人类生殖与胚胎学会植入前遗传学检测联盟关于结构和数目染色体畸变检测的良好实践建议。
Hum Reprod Open. 2020 May 29;2020(3):hoaa017. doi: 10.1093/hropen/hoaa017. eCollection 2020.