ESHRE PGT Consortium Good Practice Recommendations for the Organisation of PGT

Overview

Journal Hum Reprod Open

Publisher Oxford University Press

Specialty Reproductive Medicine

Date 2020 Jun 12

PMID 32524036

Citations 46

Authors

Filipa Carvalho

Edith Coonen

Veerle Goossens

Georgia Kokkali

Carmen Rubio

Madelon Meijer-Hoogeveen

Celine Moutou

Nathalie Vermeulen

Martine De Rycke

Affiliations

Soon will be listed here.

Abstract

The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for preimplantation genetic diagnosis, published in 2005 and 2011, are considered outdated and the development of new papers outlining recommendations for good practice in PGT was necessary. The current updated version of the recommendations for good practice is, similar to the 2011 version, split into four documents, one of which covers the organisation of a PGT centre. The other documents focus on the different technical aspects of embryo biopsy, PGT for monogenic/single-gene defects (PGT-M) and PGT for chromosomal structural rearrangements/aneuploidies (PGT-SR/PGT-A). The current document outlines the steps prior to starting a PGT cycle, with details on patient inclusion and exclusion, and counselling and information provision. Also, recommendations are provided on the follow-up of PGT pregnancies and babies. Finally, some further recommendations are made on the practical organisation of an IVF/PGT centre, including basic requirements, transport PGT and quality management. This document, together with the documents on embryo biopsy, PGT-M and PGT-SR/PGT-A, should assist everyone interested in PGT in developing the best laboratory and clinical practice possible.

Citing Articles

ViLR: a novel virtual long read method for breakpoint identification and direct SNP haplotyping in de novo PGT-SR carriers without a proband.

Xue J, Xie M, Cai J, Kang K, Gu M, Li M Reprod Biol Endocrinol. 2025; 23(1):34.

PMID: 40038676 PMC: 11881346. DOI: 10.1186/s12958-025-01366-3.

Embryonic and neonatal outcomes following double vitrification/thawing: a systematic review and meta-analysis.

Maleki-Hajiagha A, Shafie A, Rezayi S, Marvi M, Karimi R, Amidi F BMC Pregnancy Childbirth. 2025; 25(1):206.

PMID: 40012071 PMC: 11863950. DOI: 10.1186/s12884-025-07311-x.

Diminished ovarian reserve is associated to euploidy rate: a single center study.

Carnesi E, Castellano S, Albani E, Busnelli A, Smeraldi A, Bulbul O Front Endocrinol (Lausanne). 2025; 15:1535776.

PMID: 39897960 PMC: 11783844. DOI: 10.3389/fendo.2024.1535776.

Comparison of Non-Invasive and Minimally Invasive Preimplantation Genetic Testing for Aneuploidy Using Samples Derived from the Same Embryo Culture.

Bednarska-Czerwinska A, Smolen-Dzirba J, Strychalska A, Sierka W, Wroblewska U, Mermer P J Clin Med. 2025; 14(1.

PMID: 39797117 PMC: 11721003. DOI: 10.3390/jcm14010033.

Dual trigger versus human chorionic gonadotropin trigger for blastocyst quality and cumulative live birth.

He Z, Liu Y, Huang N, Liu X, Zeng L, Lian Y J Assist Reprod Genet. 2024; 41(12):3445-3453.

PMID: 39549203 PMC: 11707115. DOI: 10.1007/s10815-024-03293-5.

References

Harton G, De Rycke M, Fiorentino F, Moutou C, Sengupta S, Traeger-Synodinos J . ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2010; 26(1):33-40. DOI: 10.1093/humrep/deq231. View

Harton G, Harper J, Coonen E, Pehlivan T, Vesela K, Wilton L . ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD. Hum Reprod. 2010; 26(1):25-32. DOI: 10.1093/humrep/deq230. View

De Rycke M, Goossens V, Kokkali G, Meijer-Hoogeveen M, Coonen E, Moutou C . ESHRE PGD Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013. Hum Reprod. 2017; 32(10):1974-1994. DOI: 10.1093/humrep/dex265. View

Bender Atik R, Christiansen O, Elson J, Kolte A, Lewis S, Middeldorp S . ESHRE guideline: recurrent pregnancy loss. Hum Reprod Open. 2019; 2018(2):hoy004. PMC: 6276652. DOI: 10.1093/hropen/hoy004. View

Carvalho F, Moutou C, Dimitriadou E, Dreesen J, Gimenez C, Goossens V . ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Hum Reprod Open. 2020; 2020(3):hoaa018. PMC: 7257022. DOI: 10.1093/hropen/hoaa018. View

de Los Santos M, Apter S, Coticchio G, Debrock S, Lundin K, Plancha C . Revised guidelines for good practice in IVF laboratories (2015). Hum Reprod. 2016; 31(4):685-6. DOI: 10.1093/humrep/dew016. View

. The Preimplantation Genetic Diagnosis International Society (PGDIS): Guidelines for good practice in PGD. Reprod Biomed Online. 2004; 9(4):430-4. DOI: 10.1016/s1472-6483(10)61279-5. View

Zegers-Hochschild F, Adamson G, Dyer S, Racowsky C, de Mouzon J, Sokol R . The International Glossary on Infertility and Fertility Care, 2017. Hum Reprod. 2017; 32(9):1786-1801. PMC: 5850297. DOI: 10.1093/humrep/dex234. View

Harper J, Aittomaki K, Borry P, Cornel M, De Wert G, Dondorp W . Recent developments in genetics and medically assisted reproduction: from research to clinical applications. Eur J Hum Genet. 2017; 26(1):12-33. PMC: 5839000. DOI: 10.1038/s41431-017-0016-z. View

10.

Claustres M, Kozich V, Dequeker E, Fowler B, Hehir-Kwa J, Miller K . Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet. 2013; 22(2):160-70. PMC: 3895644. DOI: 10.1038/ejhg.2013.125. View

11.

Harton G, Braude P, Lashwood A, Schmutzler A, Traeger-Synodinos J, Wilton L . ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod. 2010; 26(1):14-24. DOI: 10.1093/humrep/deq229. View

12.

Harton G, Magli M, Lundin K, Montag M, Lemmen J, Harper J . ESHRE PGD Consortium/Embryology Special Interest Group--best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2010; 26(1):41-6. DOI: 10.1093/humrep/deq265. View

13.

. Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online. 2008; 16(1):134-47. DOI: 10.1016/s1472-6483(10)60567-6. View

14.

Shenfield F, Pennings G, Devroey P, Sureau C, Tarlatzis B, Cohen J . Taskforce 5: preimplantation genetic diagnosis. Hum Reprod. 2003; 18(3):649-51. DOI: 10.1093/humrep/deg110. View

15.

Kokkali G, Coticchio G, Bronet F, Celebi C, Cimadomo D, Goossens V . ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT. Hum Reprod Open. 2020; 2020(3):hoaa020. PMC: 7257009. DOI: 10.1093/hropen/hoaa020. View

16.

Thornhill A, deDie-Smulders C, Geraedts J, Harper J, Harton G, Lavery S . ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod. 2004; 20(1):35-48. DOI: 10.1093/humrep/deh579. View

17.

. Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril. 2007; 88(6):1497-504. DOI: 10.1016/j.fertnstert.2007.10.010. View

18.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405-24. PMC: 4544753. DOI: 10.1038/gim.2015.30. View

19.

Vermeulen N, Le Clef N, Veleva Z, DAngelo A, Tilleman K . European Recommendations for good practice in addition to an evidence-based guidelines programme: rationale and method of development. BMJ Evid Based Med. 2018; 24(1):30-34. DOI: 10.1136/bmjebm-2018-111032. View

20.

Coonen E, Rubio C, Christopikou D, Dimitriadou E, Gontar J, Goossens V . ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations. Hum Reprod Open. 2020; 2020(3):hoaa017. PMC: 7257111. DOI: 10.1093/hropen/hoaa017. View