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Review
. 2024 Dec 17;15(12):1613.
doi: 10.3390/genes15121613.

Advancements and Challenges in Preimplantation Genetic Testing for Aneuploidies: In the Pathway to Non-Invasive Techniques

Ana Del Arco de la Paz  1   2 , Carla Giménez-Rodríguez  1   2 , Aikaterini Selntigia  3 , Marcos Meseguer  1   2 , Daniela Galliano  3
Affiliations
Review

Advancements and Challenges in Preimplantation Genetic Testing for Aneuploidies: In the Pathway to Non-Invasive Techniques

Ana Del Arco de la Paz et al. Genes (Basel). .

Abstract

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.

Keywords: artificial intelligence; embryo biopsy; non-invasive preimplantation genetic testing; preimplantation genetic testing for aneuploidy; time-lapse.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Evolution of PGT-A techniques.
Figure 2
Figure 2
Overview of FISH methodology for chromosomal analysis.
Figure 3
Figure 3
Overview of traditional PGT-A techniques following the introduction of WGA.
Figure 4
Figure 4
Overview of non-invasive PGT-A methods.
See this image and copyright information in PMC

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