Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 May 29;2020(3):hoaa018.
doi: 10.1093/hropen/hoaa018. eCollection 2020.

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

ESHRE PGT-M Working Group; Filipa Carvalho  1   2 , Céline Moutou  3   4 , Eftychia Dimitriadou  5 , Jos Dreesen  6   7 , Carles Giménez  8 , Veerle Goossens  9 , Georgia Kakourou  10   11 , Nathalie Vermeulen  9 , Daniela Zuccarello  12 , Martine De Rycke  13   14
Affiliations

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

ESHRE PGT-M Working Group et al. Hum Reprod Open. .

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 The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary.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

Keywords: ESHRE; HLA; exclusion testing; good practice; mitochondrial DNA; monogenic disorders; pathogenic variants; preimplantation genetic testing.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Overview of the IVF/PGT process, and how all aspects are covered by one of the four recommendations papers. IVF: in vitro fertilisation, PGT: preimplantation genetic testing.
Figure 2
Figure 2
Overview of the testing strategies that can be applied for PGT-M. PGT-M: PGT for monogenic/single-gene defects, PGT-A: PGT for aneuploidy, PGT-SR: PGT for chromosomal structural rearrangements, SNP: single nucleotide polymorphism, NGS: next-generation sequencing.
See this image and copyright information in PMC

References

    1. 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. - DOI - PMC - PubMed
    1. 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. - DOI - PMC - PubMed
    1. 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. - DOI - PMC - PubMed
    1. Harper JC, Aittomaki K, Borry P, Cornel MC, de G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I et al. . Recent developments in genetics and medically assisted reproduction: from research to clinical applications. Eur J Hum Genet 2018;26:12–33. - PMC - PubMed
    1. Harton G, Braude P, Lashwood A, Schmutzler A, Traeger-Synodinos J, Wilton L, Harper JC. ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod 2011a;26:14–24. - PubMed