Diverging guidelines and consensus statements on preimplantation genetic testing for aneuploidy: indications and strategies reviewed

Preimplantation genetic testing for aneuploidy (PGT-A) is widely used to screen for embryo aneuploidy, enabling the selection and transfer of genetically normal embryos. Despite its potential to improve clinical outcomes, the implementation of PGT-A raises challenges, including variability in clinical indications, protocols, interpretation of results, and post-PGT counselling. To better explore the extent of standardization and consistency in PGT-A practice, this study undertook a comparative analysis of recommendations from widely adopted guidelines, opinion papers, and position statements on PGT-A, emphasizing both convergent views and points of divergence. Thus, the impact of variability in PGT-A practice has been assessed by reviewing the technical and clinical approaches established by n = 11 authoritative scientific societies. Recommendations from widely adopted guidelines, opinion and position papers were compared, highlighting areas of both consensus and divergence. Advanced maternal age is the only indication to PGT-A proposed in the committee opinion of the American Society for Reproductive Medicine and in general all the societies concur with this opinion. However, recurrent implantation failure and recurrent miscarriages are also indications for PGT-A according to 4 societies and male factor infertility by 3 societies. Comparative genomic hybridization is one of the recommended testing platforms by 6 societies while the more recent documents tend to support the use of next generation sequencing or single nucleotide polymorphism array. Approaches to managing mosaic embryo transfers differ, with only some societies providing criteria for embryo prioritization or defining thresholds for the degree of mosaicism. Similarly, there is no uniform guidance on prenatal testing of pregnancies following PGT-A. None of the guideline or document herein presented was able to label recommendation with a grade assigned based on the strength of the supporting evidence. As medical knowledge and evidence evolve rapidly in PGT-A and robust data from RCTs is scarce, proposing specific recommendations is very challenging. Older guidelines may not reflect the most recent research findings or technological advancements, which can significantly affect their relevance and accuracy. Similar content being viewed by others

The authors wish to express their sincere gratitude to SIRU – the Italian Society of Human Reproduction – for its valuable contribution, constructive feedback, and support in reviewing and refining the final document.—Domenico Baldini (Momò Fertilife, Bisceglie, Italy);—Stefano Bernardi (Rimini, Italy)—Marina Castelli (Centro Medico Torre, Pordenone, Italy),—Fabrizio Castiglioni (Clinica San Carlo, Paderno Dugnano, Italy),—Sandrine Chamayou (Centro HERA-Unità di Medicina della Riproduzione, CT, Italy), —Domenico Carone (Eugin, Taranto, Italy), —Domenico Dell’Edera (Unit of Cytogenetic and Molecular Genetics, "Madonna delle Grazie" Hospital, Matera, Italy.), —Egidio Fino (Rome, Italy), —Stefania Iaccarino (Centro Chemis, Naples, Italy), —Antonino Guglielmino (Centro HERA-Unità di Medicina della Riproduzione, CT, Italy),—Roberto Laganara (Biotech PMA, Padua, Italy),—Sandro La Vignera (Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy), — Corina Lepadatu (Reproductive Medicine Unit, San Paolo Hospital, University of Milan, Milan, Italy), —Serena Maruccia (Istituti Clinici Zucchi, Monza, Italy),—Sabrina Manzella (Centro Hera, Siracusa, Italy),—Maria Giulia Minasi (Villa Mafalda, Center For Reproductive Medicine, Rome, Italy);—Luigi Montano (Andrology Unit and Service of Lifestyle Medicine in UroAndrology, Local Health Authority, Salerno, Italy), -Alessio Paffoni (Infertility Unit, ASST Lariana, Cantù, Italy),—Simone Palini (Ospedale "Cervesi" di Cattolica-AUSL Romagna, Cattolica Italy),—Mariangela Palmieri (Mediterraneo Medical Assisted Procreation (MAP), Salerno,Italy),—Stefano Palomba (Obstetrics and Gynecology, University Sapienza of Rome, Rome, Italy),— Sebastiana Pappalardo (Reproduction and Fertility Center, Rome, Italy),—Maria Giuseppina Picconeri (NIKE Medical Center, Rome, Italy),—Paola Piomboni (Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy),—Guglielmo Ragusa (Unit of Reproductive Medicine, Hospital "Borgo Trento", Verona, Italy),—Paolo Rossi ("Santa Chiara Hospital", Pisa, Italy),—Giovanni Ruvolo (Center for Reproductive Biology, Palermo, Italy),—Francesca Tondo (Infertility Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy),—Ermanno Valter Venti (Unità di Medicina della Riproduzione—Centro HERA, Catania, Italy),—Aldo Volpes (Unit of Reproductive Medicine, ANDROS Day Surgery Clinic, Palermo, Italy),—Stefano Zaffagnini (Tethys Center, Verona, Italy), —Vanessa Zurkirch (Careggi University Hospital, Florence, Italy) Funding This study was partially supported by the Italian Ministry of Health – Current Research IRCCS. Author information Authors and Affiliations Consortia Corresponding author Ethics declarations Ethics approval and consent to participate Not applicable. Consent for publication Not applicable. Competing interests P. V. is the Co-Editor-in-Chief of the Journal of Endometriosis and Uterine Disorders and received honoraria from Gedeon-Richter for speaker contribution. E.S. received honoraria from IBSA and Ipsen. He also handles research grants obtained with the contributions of Ferring, IBSA, and Gedeon-Richter. All the other authors have no conflicts of interests. Additional information Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Supplementary Information Rights and permissions Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/. About this article Cite this article Sichenze, L., Fiore, A., Casalechi, M. et al. Diverging guidelines and consensus statements on preimplantation genetic testing for aneuploidy: indications and strategies reviewed. Reprod Biol Endocrinol (2026). https://doi.org/10.1186/s12958-026-01545-w Received: Accepted: Published: DOI: https://doi.org/10.1186/s12958-026-01545-w