Recent advances in preimplantation genetic testing for aneuploidy (PGT-A) have significantly enhanced its application in ART, providing critical insights into embryo viability, and potentially reducing both the time spent in fertility treatments and the risk of pregnancy loss. With the integration of next-generation sequencing, PGT-A now offers greater diagnostic precision, although challenges related to segmental aneuploidies and mosaicism remain. The emergence of non-invasive PGT-A (niPGT-A), which analyzes DNA in spent embryo culture media, promises a simpler aneuploidy screening method. This mini review assesses the methodological criteria for test validation, the current landscape of PGT-A, and the potential of niPGT-A, while evaluating its advantages and potential pitfalls. It underscores the importance of a robust three-phase validation process to ensure the clinical reliability of PGT-A. Despite initial encouraging data, niPGT-A not only confronts issues of DNA amplification failure and diagnostic inaccuracies but also has yet to meet the three-prong criteria required for appropriate test validation, necessitating further research for its clinical adoption. The review underscores that niPGT-A, like traditional PGT-A, must attain the high standards of precision and reliability expected of any genetic testing platform used in clinical settings before it can be adopted into routine ART protocols.

中文翻译：

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非整倍体非侵入性植入前基因检测：承诺是真的吗？


植入前非整倍体基因检测 (PGT-A) 的最新进展显着增强了其在 ART 中的应用，为胚胎活力提供了重要的见解，并有可能减少生育治疗的时间和流产的风险。随着新一代测序的集成，PGT-A 现在提供了更高的诊断精度，尽管与节段非整倍体和嵌合体相关的挑战仍然存在。非侵入性 PGT-A (niPGT-A) 的出现可分析用过的胚胎培养基中的 DNA，有望提供一种更简单的非整倍体筛查方法。这篇小型综述评估了测试验证的方法学标准、PGT-A 的现状以及 niPGT-A 的潜力，同时评估了其优点和潜在缺陷。它强调了稳健的三阶段验证过程对于确保 PGT-A 临床可靠性的重要性。尽管最初的数据令人鼓舞，但 niPGT-A 不仅面临 DNA 扩增失败和诊断不准确的问题，而且尚未满足适当测试验证所需的三管齐下标准，因此需要进一步研究其临床应用。该审查强调，niPGT-A 与传统的 PGT-A 一样，必须达到临床环境中使用的任何基因检测平台所期望的高标准的精度和可靠性，然后才能被采用到常规 ART 方案中。