ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders

Filipa Carvalho*, Céline Moutou*, Eftychia Dimitriadou, Jos Dreesen, Carles Giménez, Veerle Goossens, Georgia Kakourou, Nathalie Vermeulen, Daniela Zuccarello, Martine De Rycke, ESHRE PGT-M Working Group

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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 The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary.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 monogenic/single-gene defects (PGT-M) and covers recommendations on basic methods for PGT-M and testing strategies. Furthermore, some specific recommendations are formulated for special cases, including de novo pathogenic variants, consanguineous couples, HLA typing, exclusion testing and disorders caused by pathogenic variants in the mitochondrial DNA. 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 chromosomal structural rearrangements/aneuploidies. Together, these papers should assist scientists interested in PGT in developing the best laboratory and clinical practice possible.

Original languageEnglish
Article number018
Pages (from-to)1-18
Number of pages18
JournalHuman reproduction open
Issue number3
Publication statusPublished - 2020


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

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