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非整倍体无创性植入前遗传学检测的系统评价。

A systematic review of noninvasive preimplantation genetic testing for aneuploidy.

机构信息

NextGen Genetics, Santa Clara, California.

NextGen Genetics, Santa Clara, California.

出版信息

Fertil Steril. 2023 Aug;120(2):235-239. doi: 10.1016/j.fertnstert.2023.06.013. Epub 2023 Jun 24.

Abstract

Noninvasive and minimally invasive preimplantation genetic testing for aneuploidy (PGT-A) is a tool that may one day become the gold standard for embryonic chromosomal screening. Investigations on this topic have ranged from studying the culture media of embryos to the fluid inside the blastocoel, all in an attempt to find a reliable source of DNA without the need to biopsy the embryo. There is great interest across the board, both from those for and against biopsy, in a reliable test process that would give the patient and provider the same information possible from a biopsy without the risk. We aim to explore the current available research to better understand the utility and accuracy of PGT-A with these new sampling techniques. General concordance rates in comparison with biopsy-based PGT-A are promising, but it is clear that additional research and understanding are needed before adopting noninvasive and minimally invasive PGT-A as a widely used tool with strong clinical utility.

摘要

非侵入性和微创性胚胎植入前遗传学检测(PGT-A)是一种工具,有朝一日可能成为胚胎染色体筛查的金标准。针对这一主题的研究范围广泛,从研究胚胎的培养基到囊胚腔内的液体,都试图寻找一种无需对胚胎进行活检即可获得可靠 DNA 来源的方法。无论是否支持活检,人们都对这种可靠的检测过程非常感兴趣,因为这种检测过程可以在不增加风险的情况下,为患者和提供者提供与活检相同的信息。我们旨在探讨当前可用的研究,以更好地了解这些新技术在 PGT-A 中的应用和准确性。与基于活检的 PGT-A 相比,总体一致性率很有前景,但显然需要进一步的研究和理解,然后才能将非侵入性和微创性 PGT-A 作为一种具有强大临床实用性的广泛应用工具。

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