ESHRE PGT Consortium data collection XXI: PGT analyses in 2018.

PGT aneuploidy comprehensive genetic testing data collection human embryo monogenic disorders registry structural rearrangements

Journal

Human reproduction open
ISSN: 2399-3529
Titre abrégé: Hum Reprod Open
Pays: England
ID NLM: 101722764

Informations de publication

Date de publication:
2023
Historique:
received: 14 02 2023
medline: 24 4 2023
pubmed: 24 4 2023
entrez: 24 04 2023
Statut: epublish

Résumé

What are the trends and developments in preimplantation genetic testing (PGT) in 2018 as compared to previous years? The main trends observed in this 21st dataset on PGT are that the implementation of trophectoderm biopsy with comprehensive whole-genome testing is most often applied for PGT-A and concurrent PGT-M/SR/A, while for PGT-M and PGT-SR, single-cell testing with PCR and FISH still prevail. Since it was established in 1997, the ESHRE PGT Consortium has been collecting and analysing data from mainly European PGT centres. To date, 20 datasets and an overview of the first 10 years of data collections have been published. The data for PGT analyses performed between 1 January 2018 and 31 December 2018 with a 2-year follow-up after analysis were provided by participating centres on a voluntary basis. Data were collected using an online platform, which is based on genetic analysis and has been in use since 2016. Data on biopsy method, diagnostic technology, and clinical outcome were submitted by 44 centres. Records with analyses for more than one PGT for monogenic disorders (PGT-M) and/or PGT for chromosomal structural rearrangements (PGT-SR), or with inconsistent data regarding the PGT modality, were excluded. All transfers performed within 2 years after the analysis were included, enabling the calculation of cumulative pregnancy rates. Data analysis, calculations, and preparation of figures and tables were carried out by expert co-authors. The current data collection from 2018 covers a total of 1388 analyses for PGT-M, 462 analyses for PGT-SR, 3003 analyses for PGT for aneuploidies (PGT-A), and 338 analyses for concurrent PGT-M/SR with PGT-A.The application of blastocyst biopsy is gradually rising for PGT-M (from 19% in 2016-2017 to 33% in 2018), is status quo for PGT-SR (from 30% in 2016-2017 to 33% in 2018) and has become the most used biopsy stage for PGT-A (from 87% in 2016-2017 to 98% in 2018) and for concurrent PGT-M/SR with PGT-A (96%). The use of comprehensive, whole-genome amplification (WGA)-based diagnostic technology showed a small decrease for PGT-M (from 15% in 2016-2017 to 12% in 2018) and for PGT-SR (from 50% in 2016-2017 to 44% in 2018). Comprehensive testing was, however, the main technology for PGT-A (from 93% in 2016-2017 to 98% in 2018). WGA-based testing was also widely used for concurrent PGT-M/SR with PGT-A, as a standalone technique (74%) or in combination with PCR or FISH (24%). Trophectoderm biopsy and comprehensive testing strategies are linked with higher diagnostic efficiencies and improved clinical outcomes per embryo transfer. The findings apply to the data submitted by 44 participating centres and do not represent worldwide trends in PGT. Details on the health of babies born were not provided in this manuscript. The Consortium datasets provide a valuable resource for following trends in PGT practice. The study has no external funding, and all costs are covered by ESHRE. There are no competing interests declared. N/A.

Identifiants

pubmed: 37091225
doi: 10.1093/hropen/hoad010
pii: hoad010
pmc: PMC10121336
doi:

Types de publication

Journal Article

Langues

eng

Pagination

hoad010

Informations de copyright

© The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology.

Déclaration de conflit d'intérêts

There are no competing interests to declare.

Références

Hum Reprod. 2015 Aug;30(8):1763-89
pubmed: 26071418
Hum Reprod. 2014 May;29(5):880-903
pubmed: 24619432
Hum Reprod. 2012 Jul;27(7):1887-911
pubmed: 22572107
Hum Reprod Open. 2022 Nov 07;2022(4):hoac044
pubmed: 36349144
Hum Reprod. 2005 Jan;20(1):19-34
pubmed: 15550497
Hum Reprod. 2008 Apr;23(4):741-55
pubmed: 18238908
Hum Reprod. 2007 Feb;22(2):323-36
pubmed: 17132677
N Engl J Med. 2015 Nov 19;373(21):2089-90
pubmed: 26581010
Hum Reprod. 2017 Sep 1;32(9):1786-1801
pubmed: 29117321
Hum Reprod Open. 2021 Jul 27;2021(3):hoab024
pubmed: 34322603
Hum Reprod Open. 2020 May 29;2020(3):hoaa017
pubmed: 32500102
Hum Reprod. 2000 Dec;15(12):2673-83
pubmed: 11098044
Hum Reprod. 2002 Jan;17(1):233-46
pubmed: 11756394
Hum Reprod Update. 2012 May-Jun;18(3):234-47
pubmed: 22343781
Hum Reprod Open. 2020 Oct 03;2020(4):hoaa043
pubmed: 33033756
Hum Reprod. 1999 Dec;14(12):3138-48
pubmed: 10601110
Hum Reprod Open. 2021 Aug 05;2021(3):hoab026
pubmed: 34377841
Hum Reprod. 2008 Dec;23(12):2629-45
pubmed: 18641400
Genes (Basel). 2020 May 29;11(6):
pubmed: 32485954
Hum Reprod. 2017 Oct 1;32(10):1974-1994
pubmed: 29117384
Hum Reprod. 2006 Jan;21(1):3-21
pubmed: 16172150
Hum Reprod. 2009 Aug;24(8):1786-810
pubmed: 19403563
Hum Reprod. 2010 Nov;25(11):2685-707
pubmed: 20813804

Auteurs

F Spinella (F)

Eurofins GENOMA Group srl, Molecular Genetics Laboratories, Rome, Italy.

F Bronet (F)

IVIRMA-IVI Madrid, Madrid, Spain.

F Carvalho (F)

Genetics-Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal.
i3s-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.

E Coonen (E)

Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.

M De Rycke (M)

Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.

C Rubio (C)

PGT-A Research, Igenomix, Valencia, Spain.

V Goossens (V)

ESHRE Central Office, Strombeek-Bever, Belgium.

A Van Montfoort (A)

Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.

Classifications MeSH