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辅助生殖中染色体非整倍体的无创植入前检测:SWOT分析

Non Invasive Preimplantation Testing for Aneuploidies in Assisted Reproduction: A SWOT Analysis.

作者信息

de Albornoz Elena Carrillo, Arroyo Jose Antonio Dominguez, Iriarte Yosu Franco, Vendrell Xavier, Vidal Verónica Martínez, Roig María Carrera

机构信息

Hospital Ruber Internacional, Madrid, Spain.

Doctoral Program in Medicine and Surgery, Universidad Autonoma of Madrid, C. Arzobispo Morcillo, Madrid, 28029, Spain.

出版信息

Reprod Sci. 2025 Jan;32(1):1-14. doi: 10.1007/s43032-024-01698-2. Epub 2024 Oct 21.

Abstract

The implementation of non-invasive PGT-A offers a new strategy to genetically assess the preimplantation embryo and to enhance IVF results. The extraction of DNA from the embryo culture medium has been sufficiently demonstrated, and the ability to obtain chromosomal information as a result is particularly interesting. As morphological criteria have proven to have a weak correlation with embryo ploidy status, this technique emerges as a promising alternative for embryo selection. It also appears reasonable that avoiding biopsy may enhance further embryo development. However, there are growing concerns regarding several aspects of this technique, such as the origin of this cell free DNA, the degree of representativeness of the whole embryo, the need for extended culture or the absence of standardized protocols. Despite the published data on good prognosis couples are promising, niPGT-A is yet to be considered a substitute for trophectoderm biopsy. The current SWOT analysis aims to summarize both resolved and unresolved issues, as well as limiting aspects of niPGT-A.

摘要

无创胚胎植入前基因检测(PGT-A)的实施为从基因层面评估植入前胚胎及提高体外受精(IVF)成功率提供了一种新策略。从胚胎培养基中提取DNA已得到充分证实,由此获取染色体信息的能力尤其引人关注。由于形态学标准已被证明与胚胎倍性状态的相关性较弱,这项技术成为胚胎选择的一种有前景的替代方法。避免活检可能会促进胚胎进一步发育,这似乎也合理。然而,人们对该技术的几个方面越来越担忧,比如这种游离DNA的来源、整个胚胎的代表性程度、延长培养的必要性或缺乏标准化方案。尽管关于预后良好夫妇的已发表数据很有前景,但无创PGT-A尚未被视为滋养外胚层活检的替代方法。当前的SWOT分析旨在总结无创PGT-A已解决和未解决的问题以及局限性。

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