ESHRE PGT Consortium good practice recommendations for the organisation of PGT†

HUMAN REPRODUCTION OPEN - Tập 2020 Số 3 - 2020
Filipa Carvalho1, Edith Coonen2,3, V. Goossens4, Georgia Kokkali5, Carmen Rubio6, M. Meijer‐Hoogeveen7, Céline Moutou8, Nathalie Vermeulen4, Martine De Rycke9,10
1Genetics – Department of Pathology, Faculty of Medicine, University of Porto and i3s – Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal
2Departments of Clinical Genetics and Reproductive Medicine, Maastricht University Medical Centre, Maastricht, the Netherlands
3School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands
4ESHRE Central Office, Grimbergen, Belgium
5Reproductive Medicine Unit, Genesis Athens Clinic, 14-16 Papanicoli street, Chalandri, Athens, Greece
6PGT-A Research, Igenomix, Valencia, Spain
7Department Woman and Baby, University Medical Centre Utrecht, Utrecht, The Netherlands
8Laboratoire de Diagnostic Préimplantatoire, Université de Strasbourg / Hôpitaux Universitaires de Strasbourg, Schiltigheim, France
9Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium
10Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Brussels, Belgium

Tóm tắt

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ESHRE guidelines on best practice for preimplantation genetic diagnosis, published in 2005 and 2011, are considered outdated and the development of new papers outlining recommendations for good practice in PGT was necessary.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.

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Tài liệu tham khảo

Claustres, 2014, Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic), Eur J Hum Genet, 22, 160, 10.1038/ejhg.2013.125

De Rycke, 2017, ESHRE PGD Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013, Hum Reprod, 32, 1974, 10.1093/humrep/dex265

De los Santos, 2016, Revised guidelines for good practice in IVF laboratories (2015), Hum Reprod, 31, 685, 10.1093/humrep/dew016

Carvalho, 2020, ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders, Hum Reprod Open, 10.1093/hropen/hoaa018

Coonen, 2020, ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations, Hum Reprod Open, 10.1093/hropen/hoaa017

Kokkali, 2020, ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for preimplantation genetic testing, Hum Reprod Open, 10.1093/hropen/hoaa020

Harper, 2018, Recent developments in genetics and medically assisted reproduction: from research to clinical applications, Eur J Hum Genet, 26, 12, 10.1038/s41431-017-0016-z

Harton, 2011, ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening, Hum Reprod, 26, 14, 10.1093/humrep/deq229

Harton, 2011, ESHRE PGD consortium best practice guidelines for amplification-based PGD, Hum Reprod, 26, 33, 10.1093/humrep/deq231

Harton, 2011, ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD, Hum Reprod, 26, 25, 10.1093/humrep/deq230

Harton, 2011, 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, 26, 41, 10.1093/humrep/deq265

2008, Preimplantation genetic testing: a Practice Committee opinion, Fertil Steril, 90, S136, 10.1016/j.fertnstert.2008.08.062

2008, Guidelines for good practice in PGD: programme requirements and laboratory quality assurance, Reprod Biomed Online, 16, 134, 10.1016/S1472-6483(10)60567-6

Richards, 2015, 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, 17, 405, 10.1038/gim.2015.30

Shenfield, 2003, Taskforce 5: preimplantation genetic diagnosis, Hum Reprod, 18, 649, 10.1093/humrep/deg110

Bender Atik, 2018, ESHRE guideline: recurrent pregnancy loss, Hum Reprod Open, 2018

2004, Guidelines for good practice in PGD, Reprod Biomed Online, 9, 430, 10.1016/S1472-6483(10)61279-5

Thornhill, 2005, ESHRE PGD Consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’, Hum Reprod, 20, 35, 10.1093/humrep/deh579

Vermeulen, 2019, European Recommendations for good practice in addition to an evidence-based guidelines programme: rationale and method of development, BMJ Evid Based Med, 24, 30, 10.1136/bmjebm-2018-111032

Zegers-Hochschild, 2017, The international glossary on infertility and fertility care, Hum Reprod, 32, 1786, 10.1093/humrep/dex234

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HUMAN REPRODUCTION OPEN

Tập 2020 Số 3

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