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Preimplantation genetic screening 2.0: the theory

机译:植入前基因筛查2.0:理论

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摘要

During the last few years a new generation of preimplantation genetic screening (PGS) has been introduced. In this paper, an overview of the different aspects of this so-called PGS 2.0 with respect to the why (what are the indications), the when (which developmental stage, i.e. which material should be studied) and the how (which molecular technique should be used) is given. With respect to the aims it is clear that PGS 2.0 can be used for a variety of indications. However, the beneficial effect of PGS 2.0 has not been proved yet in RCTs. It is clear that cleavage stage is not the optimal stage for biopsy. Almost all advocates of PGS 2.0 prefer trophectoderm biopsy. There are many new methods that allow the study of complete aneuploidy with respect to one or more of the 24 chromosomes. Because of the improved vitrification methods, selection of fresh embryos for transfer is more and more often replaced by frozen embryo transfer. The main goal of PGS has always been the improvement of IVF success. However, success is defined by different authors in many different ways. This makes it very difficult to compare the outcomes of different studies. In conclusion, the introduction of PGS 2.0 will depend on the success of the new biopsy strategies in combination with the analysis of all 24 chromosomes. It remains to be seen which approach will be the most successful and for which specific groups of patients.
机译:在最近几年中,已经引入了新一代的植入前基因筛选(PGS)。本文概述了为什么所谓的PGS 2.0的不同方面,其中包括为什么(什么是适应症),何时(哪个发育阶段,即应该研究哪种材料)以及如何(哪种分子技术)。应该使用)给出。关于目标,很明显PGS 2.0可以用于多种适应症。但是,尚未在RCT中证明PGS 2.0的有益效果。显然,卵裂期不是活检的最佳阶段。几乎所有PGS 2.0的倡导者都喜欢进行滋养外胚层活检。有许多新方法可以研究24个染色体中的一个或多个的完全非整倍性。由于改进的玻璃化方法,选择新鲜的胚胎进行移植越来越多地被冷冻胚胎移植所取代。 PGS的主要目标一直是提高IVF成功率。但是,成功由不同的作者以许多不同的方式定义。这使得比较不同研究的结果非常困难。总之,PGS 2.0的引入将取决于新的活检策略与对所有24条染色体的分析相结合的成功。哪种方法将是最成功的,以及针对哪些特定患者组还有待观察。

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