Del Arco de la Paz Ana, Giménez-Rodríguez Carla, Selntigia Aikaterini, Meseguer Marcos, Galliano Daniela
IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.
IVIRMA Global Research Alliance, IVIRMA Valencia, 46015 Valencia, Spain.
Genes (Basel). 2024 Dec 17;15(12):1613. doi: 10.3390/genes15121613.
The evolution of preimplantation genetic testing for aneuploidy (PGT-A) techniques has been crucial in assisted reproductive technologies (ARTs), improving embryo selection and increasing success rates in in vitro fertilization (IVF) treatments. Techniques ranging from fluorescence in situ hybridization (FISH) to next-generation sequencing (NGS) have relied on cellular material extraction through biopsies of blastomeres at the cleavage stage on day three or from trophectoderm (TE) cells of the blastocyst. However, this has raised concerns about its potential impact on embryo development. As a result, there has been growing interest in developing non-invasive techniques for detecting aneuploidies, such as the analysis of blastocoel fluid (BF), spent culture medium (SCM), and artificial intelligence (AI) models. Non-invasive methods represent a promising advancement in PGT-A, offering the ability to detect aneuploidies without compromising embryo viability. This article reviews the evolution and principles of PGT-A, analyzing both traditional techniques and emerging non-invasive approaches, while highlighting the advantages and challenges associated with these methodologies. Furthermore, it explores the transformative potential of these innovations, which could optimize genetic screening and significantly improve clinical outcomes in the field of assisted reproduction.
胚胎植入前非整倍体基因检测（PGT-A）技术的发展在辅助生殖技术（ART）中至关重要，它改善了胚胎选择并提高了体外受精（IVF）治疗的成功率。从荧光原位杂交（FISH）到新一代测序（NGS）等技术，都依赖于在第三天的卵裂阶段对卵裂球进行活检或从囊胚的滋养外胚层（TE）细胞中提取细胞材料。然而，这引发了人们对其对胚胎发育潜在影响的担忧。因此，人们对开发用于检测非整倍体的非侵入性技术越来越感兴趣，例如囊胚腔液（BF）分析、废弃培养基（SCM）分析和人工智能（AI）模型。非侵入性方法是PGT-A领域一项很有前景的进展，能够在不影响胚胎活力的情况下检测非整倍体。本文回顾了PGT-A的发展历程和原理，分析了传统技术和新兴的非侵入性方法，同时强调了这些方法的优点和挑战。此外，本文还探讨了这些创新的变革潜力，它们可以优化基因筛查并显著改善辅助生殖领域的临床结果。
