ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations

ESHRE PGT-SR/PGT-A Working Group, Edith Coonen, Carmen Rubio, Dimitra Christopikou, Eftychia Dimitriadou, Julia Gontar, Veerle Goossens, Maria Maurer, Francesca Spinella, Nathalie Vermeulen, Martine De Rycke

Research output: Contribution to journalArticle

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 The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary.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

Original languageEnglish
Article numberhoaa017
JournalHuman reproduction open
Volume2020
Issue number3
DOIs
Publication statusPublished - 2020

Bibliographical note

© The Author(s) 2020. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology.

Keywords

  • ESHRE
  • HLA
  • exclusion testing
  • good practice
  • mitochondrial DNA
  • monogenic disorders
  • pathogenic variants
  • preimplantation genetic testing

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