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

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Diverging guidelines and consensus statements on preimplantation genetic testing for aneuploidy: indications and strategies reviewed.
Συγγραφείς: Sichenze L; Department of Women's and Children's Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy., Fiore A; Department of Women's and Children's Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy., Casalechi M; Department of Women's and Children's Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy., Somigliana E; Department of Women's and Children's Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, 20122, Milan, Italy., Viganò P; Department of Women's and Children's Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy. paola.vigano@policlinico.mi.it.
Συλλογικό Έργο: Italian Society of Human Reproduction (SIRU)
Πηγή: Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2026 May 07; Vol. 24 (1). Date of Electronic Publication: 2026 May 07.
Τύπος έκδοσης: Journal Article; Review
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: BioMed Central Country of Publication: England NLM ID: 101153627 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-7827 (Electronic) Linking ISSN: 14777827 NLM ISO Abbreviation: Reprod Biol Endocrinol Subsets: MEDLINE
Imprint Name(s): Original Publication: London : BioMed Central, 2003-
Ιατρικοί όροι (MeSH): Genetic Testing*/methods , Genetic Testing*/standards , Practice Guidelines as Topic*/standards , Preimplantation Diagnosis*/methods , Preimplantation Diagnosis*/standards , Aneuploidy* , Consensus Statements as Topic*, Female ; Humans ; Pregnancy ; Comparative Genomic Hybridization ; Consensus ; Embryo Transfer
Περίληψη: 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.
(© 2026. The Author(s).)
Competing Interests: 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.
References: Fertil Steril. 2024 Sep;122(3):556. (PMID: 38945424)
Swiss Med Wkly. 2020 Jun 18;150:w20298. (PMID: 32557427)
CMAJ. 2014 Feb 18;186(3):E123-42. (PMID: 24344144)
JBRA Assist Reprod. 2023 Sep 12;27(3):453-462. (PMID: 37579264)
Genes (Basel). 2020 May 29;11(6):. (PMID: 32485954)
Hum Reprod Open. 2020 May 29;2020(3):hoaa020. (PMID: 32500104)
CMAJ. 2010 Dec 14;182(18):E839-42. (PMID: 20603348)
Hum Reprod. 2014 Aug;29(8):1603-9. (PMID: 25006203)
Fertil Steril. 2017 May;107(5):1130-1135. (PMID: 28476180)
Eur J Med Genet. 2020 May;63(5):103852. (PMID: 31972371)
J Mol Diagn. 2021 Jun;23(6):710-718. (PMID: 33781963)
Genet Med. 2017 Aug;19(8):864-866. (PMID: 28125084)
Heart. 2021 May 26;107(12):949-953. (PMID: 33622678)
Taiwan J Obstet Gynecol. 2020 Jul;59(4):489-495. (PMID: 32653118)
J Obstet Gynaecol Can. 2020 Nov;42(11):1437-1443.e1. (PMID: 32830099)
Obstet Gynecol. 2020 Mar;135(3):e133-e137. (PMID: 32080053)
Fertil Steril. 2025 Aug;124(2):246-247. (PMID: 40222701)
J Assist Reprod Genet. 2025 Aug;42(8):2467-2468. (PMID: 40888842)
Hum Reprod Open. 2018 Apr 06;2018(2):hoy004. (PMID: 31486805)
BMC Genomics. 2022 Jan 18;23(1):62. (PMID: 35042471)
Hum Reprod Open. 2022 Nov 07;2022(4):hoac044. (PMID: 36349144)
J Assist Reprod Genet. 2025 Aug;42(8):2483-2496. (PMID: 40643809)
Cochrane Database Syst Rev. 2020 Sep 8;9:CD005291. (PMID: 32898291)
Injury. 2023 May;54 Suppl 3:S26-S29. (PMID: 35135686)
Fertil Steril. 2023 Nov;120(5):973-982. (PMID: 37678731)
Reprod Biomed Online. 2022 Jul;45(1):19-25. (PMID: 35523707)
Fertil Steril. 2025 Aug;124(2):281-289. (PMID: 40222699)
Reprod Biomed Online. 2021 Jan;42(1):105-116. (PMID: 33303366)
J Assist Reprod Genet. 2023 Apr;40(4):817-826. (PMID: 36892704)
Expert Rev Mol Diagn. 2024 Sep;24(9):767-775. (PMID: 39107971)
J Assist Reprod Genet. 2025 Mar;42(3):1015-1024. (PMID: 39871067)
BMJ. 1999 Feb 20;318(7182):527-30. (PMID: 10024268)
Hum Reprod Open. 2020 May 29;2020(3):hoaa017. (PMID: 32500102)
Grant Information: Current Research IRCCS Ministero della Salute; Current research IRCCS MInistero della salute
Contributed Indexing: Investigator: D Baldini; S Bernardi; M Castelli; F Castiglioni; S Chamayou; D Carone; D Dell'Edera; E Fino; S Iaccarino; A Guglielmino; R Laganara; S La Vignera; C Lepadatu; S Maruccia; S Manzella; MG Minasi; L Montano; A Paffoni; S Palini; M Palmieri; S Palomba; S Pappalardo; MG Picconeri; P Piomboni; G Ragusa; P Rossi; G Ruvolo; F Tondo; EV Venti; A Volpes; S Zaffagnini; V Zurkirch
Keywords: CGH; Clinical Guidelines; Clinical Indications; Genetic Counseling; Genetic guidelines; Mosaicism Management; Preimplantation Genetic Testing for Aneuploidy (PGT-A); SNP-array); Testing Platforms (NGS
Entry Date(s): Date Created: 20260507 Date Completed: 20260709 Latest Revision: 20260813
Update Code: 20260813
PubMed Central ID: PMC13349085
DOI: 10.1186/s12958-026-01545-w
PMID: 42098861
Βάση Δεδομένων: MEDLINE
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  Data: 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.<br /> (© 2026. The Author(s).)
– Name: Abstract
  Label: Competing Interests
  Group: Ab
  Data: 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.
– Name: Ref
  Label: References
  Group: RefInfo
  Data: Fertil Steril. 2024 Sep;122(3):556. (PMID: <searchLink fieldCode="PM" term="%2238945424%22">38945424)</searchLink><br />Swiss Med Wkly. 2020 Jun 18;150:w20298. (PMID: <searchLink fieldCode="PM" term="%2232557427%22">32557427)</searchLink><br />CMAJ. 2014 Feb 18;186(3):E123-42. (PMID: <searchLink fieldCode="PM" term="%2224344144%22">24344144)</searchLink><br />JBRA Assist Reprod. 2023 Sep 12;27(3):453-462. (PMID: <searchLink fieldCode="PM" term="%2237579264%22">37579264)</searchLink><br />Genes (Basel). 2020 May 29;11(6):. (PMID: <searchLink fieldCode="PM" term="%2232485954%22">32485954)</searchLink><br />Hum Reprod Open. 2020 May 29;2020(3):hoaa020. (PMID: <searchLink fieldCode="PM" term="%2232500104%22">32500104)</searchLink><br />CMAJ. 2010 Dec 14;182(18):E839-42. (PMID: <searchLink fieldCode="PM" term="%2220603348%22">20603348)</searchLink><br />Hum Reprod. 2014 Aug;29(8):1603-9. (PMID: <searchLink fieldCode="PM" term="%2225006203%22">25006203)</searchLink><br />Fertil Steril. 2017 May;107(5):1130-1135. (PMID: <searchLink fieldCode="PM" term="%2228476180%22">28476180)</searchLink><br />Eur J Med Genet. 2020 May;63(5):103852. (PMID: <searchLink fieldCode="PM" term="%2231972371%22">31972371)</searchLink><br />J Mol Diagn. 2021 Jun;23(6):710-718. (PMID: <searchLink fieldCode="PM" term="%2233781963%22">33781963)</searchLink><br />Genet Med. 2017 Aug;19(8):864-866. (PMID: <searchLink fieldCode="PM" term="%2228125084%22">28125084)</searchLink><br />Heart. 2021 May 26;107(12):949-953. (PMID: <searchLink fieldCode="PM" term="%2233622678%22">33622678)</searchLink><br />Taiwan J Obstet Gynecol. 2020 Jul;59(4):489-495. (PMID: <searchLink fieldCode="PM" term="%2232653118%22">32653118)</searchLink><br />J Obstet Gynaecol Can. 2020 Nov;42(11):1437-1443.e1. (PMID: <searchLink fieldCode="PM" term="%2232830099%22">32830099)</searchLink><br />Obstet Gynecol. 2020 Mar;135(3):e133-e137. (PMID: <searchLink fieldCode="PM" term="%2232080053%22">32080053)</searchLink><br />Fertil Steril. 2025 Aug;124(2):246-247. (PMID: <searchLink fieldCode="PM" term="%2240222701%22">40222701)</searchLink><br />J Assist Reprod Genet. 2025 Aug;42(8):2467-2468. (PMID: <searchLink fieldCode="PM" term="%2240888842%22">40888842)</searchLink><br />Hum Reprod Open. 2018 Apr 06;2018(2):hoy004. (PMID: <searchLink fieldCode="PM" term="%2231486805%22">31486805)</searchLink><br />BMC Genomics. 2022 Jan 18;23(1):62. (PMID: <searchLink fieldCode="PM" term="%2235042471%22">35042471)</searchLink><br />Hum Reprod Open. 2022 Nov 07;2022(4):hoac044. (PMID: <searchLink fieldCode="PM" term="%2236349144%22">36349144)</searchLink><br />J Assist Reprod Genet. 2025 Aug;42(8):2483-2496. (PMID: <searchLink fieldCode="PM" term="%2240643809%22">40643809)</searchLink><br />Cochrane Database Syst Rev. 2020 Sep 8;9:CD005291. (PMID: <searchLink fieldCode="PM" term="%2232898291%22">32898291)</searchLink><br />Injury. 2023 May;54 Suppl 3:S26-S29. (PMID: <searchLink fieldCode="PM" term="%2235135686%22">35135686)</searchLink><br />Fertil Steril. 2023 Nov;120(5):973-982. (PMID: <searchLink fieldCode="PM" term="%2237678731%22">37678731)</searchLink><br />Reprod Biomed Online. 2022 Jul;45(1):19-25. (PMID: <searchLink fieldCode="PM" term="%2235523707%22">35523707)</searchLink><br />Fertil Steril. 2025 Aug;124(2):281-289. (PMID: <searchLink fieldCode="PM" term="%2240222699%22">40222699)</searchLink><br />Reprod Biomed Online. 2021 Jan;42(1):105-116. (PMID: <searchLink fieldCode="PM" term="%2233303366%22">33303366)</searchLink><br />J Assist Reprod Genet. 2023 Apr;40(4):817-826. (PMID: <searchLink fieldCode="PM" term="%2236892704%22">36892704)</searchLink><br />Expert Rev Mol Diagn. 2024 Sep;24(9):767-775. (PMID: <searchLink fieldCode="PM" term="%2239107971%22">39107971)</searchLink><br />J Assist Reprod Genet. 2025 Mar;42(3):1015-1024. (PMID: <searchLink fieldCode="PM" term="%2239871067%22">39871067)</searchLink><br />BMJ. 1999 Feb 20;318(7182):527-30. (PMID: <searchLink fieldCode="PM" term="%2210024268%22">10024268)</searchLink><br />Hum Reprod Open. 2020 May 29;2020(3):hoaa017. (PMID: <searchLink fieldCode="PM" term="%2232500102%22">32500102)</searchLink>
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          Numbering:
            – Type: volume
              Value: 24
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Reproductive biology and endocrinology : RB&E
              Type: main
ResultId 1