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Download Brochure 1 The current brochure provides an overview of the good practice recommendation for PGT published in 4 separate papers. The aim of the current brochure is to facilitate the use of the information, especially given the numerous cross references in the published papers. The current brochure includes 5 sections which can be used as stand-alone documents: • SECTION A. ORGANISATION OF PREIMPLANTATION GENETIC TESTING • SECTION B. POLAR BODY AND EMBRYO BIOPSY FOR PREIMPLANTATION GENETIC TESTING • SECTION C. DETECTION OF MONOGENIC DISORDERS • SECTION D: DETECTION OF STRUCTURAL CHROMOSOMAL ABERRATIONS • SECTION E: DETECTION OF NUMERICAL CHROMOSOMAL ABERRATIONS All information included in this brochure is based on a series of 4 papers, and these references should be used when referring to the information contained herein. ESHRE PGT Consortium Steering committee, Carvalho F, Coonen E, Goossens V, Kokkali G, Rubio C, Meijer-Hoogeveen M, Moutou C, Vermeulen N, De Rycke M. ESHRE PGT Consortium good practice recommendations for the organisation of preimplantation genetic testing. Hum Reprod Open 2020. doi: 10.1093/hropen/hoaa021 ESHRE PGT Consortium and SIG-Embryology Biopsy Working Group, Kokkali G, Coticchio G, Bronet F, Celebi C, Cimadomo D, Goossens V, Liss J, Sofia Nunes S, Sfontouris I et al. ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for preimplantation genetic testing. Hum Reprod Open 2020. doi: 10.1093/hropen/hoaa020 ESHRE PGT-M Working Group, Carvalho F, Moutou C, Dimitriadou E, Dreesen J, Giménez C, Goossens V, Kakourou G, Vermeulen N, Zuccarello D et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Hum Reprod Open 2020. doi: 10.1093/hropen/hoaa018 ESHRE PGT-SR/PGT-A Working Group, Coonen E, Rubio C, Christopikou D, Dimitriadou E, Gontar J, Goossens V, Maurer M, Spinella F, Vermeulen N et al. ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations. Hum Reprod Open 2020. doi:10.1093/hropen/hoaa017 Disclaimer This Good Practice Recommendations (GPR) document represents the views of ESHRE, which are the result of consensus between the relevant ESHRE stakeholders and are based on the scientific evidence available at the time of preparation. ESHREs GPRs should be used for information and educational purposes. They should not be interpreted as setting a standard of care or be deemed inclusive of all proper methods of care, nor exclusive of other methods of care reasonably directed to obtaining the same results. They do not replace the need for application of clinical judgment to each individual presentation, nor variations based on locality and facility type. Furthermore, ESHREs GPRs do not constitute or imply the endorsement, or favouring of any of the included technologies by ESHRE. 2 Table of content Disclaimer ............................................................................................................................................... 1 Table of content ..................................................................................................................................... 2 Introduction ............................................................................................................................................ 5 SECTION A. Organisation of preimplantation genetic testing 8 ................................................. 7 1. Patient inclusion/exclusion criteria.................................................................................................... 8 1.1 General: inclusion/exclusion ........................................................................................................ 8 1.2 PGT-M, mitochondrial disorders and HLA: inclusion/exclusion .................................................. 8 1.2.1 PGT ............................................................................................................................................ 8 1.3 PGT-SR: inclusion/exclusion ......................................................................................................... 9 1.4 PGT-A: inclusion/exclusion ........................................................................................................ 10 2. Counselling and informed choice .................................................................................................... 10 2.1. Relevant documents ................................................................................................................. 10 2.2. Counselling: General issues ...................................................................................................... 11 2.3. PGT-related counselling ............................................................................................................ 11 2.4. Psychological support and evaluation ...................................................................................... 13 3. Basic requirements of an IVF/PGT centre ....................................................................................... 13 3.1. Laboratory infrastructure, equipment and materials .............................................................. 14 3.2. Training and personnel ............................................................................................................. 16 3.3. Labelling and witnessing ........................................................................................................... 16 4. Preclinical work-up report, examination and post-examination process ....................................... 17 4.1 Preclinical work-up .................................................................................................................... 17 4.2. Examination process ................................................................................................................. 18 4.3 Post-examination process .......................................................................................................... 20 5. Transport PGT .................................................................................................................................. 21 6. Follow-up of PGT pregnancies and children .................................................................................... 22 6.1. Prenatal diagnosis ..................................................................................................................... 22 6.2. Follow-up of PGT pregnancies and children ............................................................................. 22 7. Accreditation and Quality management.......................................................................................... 22 7.1. Accreditation ............................................................................................................................. 22 7.2. Quality management ................................................................................................................ 23 SECTION B: Polar body and embryo biopsy for preimplantation genetic testing ................................ 24 1. Introduction to biopsy and sample collection ................................................................................. 25 1.1. Zona pellucida opening ............................................................................................................. 25 1.2. Sample (PB or Embryonic cell) removal.................................................................................... 25 1.3. Time of biopsy ........................................................................................................................... 25 1.4. Sample collection ...................................................................................................................... 26 1.5. Rebiopsy of embryos ................................................................................................................ 26 2. Laboratory issues related to biopsy ................................................................................................. 26 2.1. Insemination and culture .......................................................................................................... 26 2.2. Setting up for biopsy ................................................................................................................. 27 2.3. Labelling and witnessing ........................................................................................................... 27 2.4. Quality control .......................................................................................................................... 28 3. Biopsy laboratory infrastructure, equipment and materials ........................................................... 29 3.1. Infrastructure ............................................................................................................................ 29 3.2. Equipment ................................................................................................................................. 29 3.3. Materials ................................................................................................................................... 29 4. Training for biopsy ........................................................................................................................... 30 5. Biopsy stage and procedure ............................................................................................................ 31 5.1.
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