TY - JOUR
T1 - ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations
AU - Coonen, Edith
AU - Rubio, Carmen
AU - Christopikou, Dimitra
AU - Dimitriadou, Eftychia
AU - Gontar, Julia
AU - Goossens, Veerle
AU - Maurer, Maria
AU - Spinella, Francesca
AU - Vermeulen, Nathalie
AU - De Rycke, Martine
AU - ESHRE PGT-SR/PGT-A Working Group
N1 - © The Author(s) 2020. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology.
PY - 2020
Y1 - 2020
N2 - 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 The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary.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 paper provides recommendations on the technical aspects of PGT for chromosomal structural rearrangements (PGT-SR) and PGT for aneuploidies (PGT-A) and covers recommendations on array-based comparative genomic hybridisation (aCGH) and next-generation sequencing (NGS) for PGT-SR and PGT-A and on fluorescence in situ hybridisation (FISH) and single nucleotide polymorphism (SNP) array for PGT-SR, including laboratory issues, work practice controls, pre-examination validation, preclinical work-up, risk assessment and limitations. Furthermore, some general recommendations on PGT-SR/PGT-A are formulated around training and general risk assessment, and the examination and post-examination process. This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of a PGT centre, embryo biopsy and tubing and the technical aspects of PGT for monogenic/single-gene defects (PGT-M). Together, these papers should assist everyone interested in PGT in developing the best laboratory and clinical practice possible.
AB - 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 The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary.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 paper provides recommendations on the technical aspects of PGT for chromosomal structural rearrangements (PGT-SR) and PGT for aneuploidies (PGT-A) and covers recommendations on array-based comparative genomic hybridisation (aCGH) and next-generation sequencing (NGS) for PGT-SR and PGT-A and on fluorescence in situ hybridisation (FISH) and single nucleotide polymorphism (SNP) array for PGT-SR, including laboratory issues, work practice controls, pre-examination validation, preclinical work-up, risk assessment and limitations. Furthermore, some general recommendations on PGT-SR/PGT-A are formulated around training and general risk assessment, and the examination and post-examination process. This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of a PGT centre, embryo biopsy and tubing and the technical aspects of PGT for monogenic/single-gene defects (PGT-M). Together, these papers should assist everyone interested in PGT in developing the best laboratory and clinical practice possible.
KW - ESHRE
KW - preimplantation genetic testing
KW - structural chromosomal aberrations
KW - numerical chromosomal aberrations
KW - aneuploidy
KW - good practice
KW - BODY ARRAY CGH
KW - POLAR BODY
KW - PRACTICE GUIDELINES
KW - PREDICTION
U2 - 10.1093/hropen/hoaa017
DO - 10.1093/hropen/hoaa017
M3 - Article
C2 - 32500102
SN - 2399-3529
VL - 2020
JO - Human reproduction open
JF - Human reproduction open
IS - 3
M1 - hoaa017
ER -