{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:38:57Z","timestamp":1783489137898,"version":"3.55.0"},"reference-count":108,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T00:00:00Z","timestamp":1734393600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/genes15121613","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T08:17:00Z","timestamp":1734423420000},"page":"1613","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Advancements and Challenges in Preimplantation Genetic Testing for Aneuploidies: In the Pathway to Non-Invasive Techniques"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7370-0395","authenticated-orcid":false,"given":"Ana","family":"del Arco de la Paz","sequence":"first","affiliation":[{"name":"IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"IVIRMA Global Research Alliance, IVIRMA Valencia, 46015 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Gim\u00e9nez-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"IVIRMA Global Research Alliance, IVIRMA Valencia, 46015 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2467-737X","authenticated-orcid":false,"given":"Aikaterini","family":"Selntigia","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVIRMA Rome, 00169 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos","family":"Meseguer","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"IVIRMA Global Research Alliance, IVIRMA Valencia, 46015 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Galliano","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVIRMA Rome, 00169 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1038\/nrg3245","article-title":"Human Aneuploidy: Mechanisms and New Insights into an Age-Old Problem","volume":"13","author":"Nagaoka","year":"2012","journal-title":"Nat. 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