Web of Science: 15 cites, Scopus: 16 cites, Google Scholar: cites,
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis : toward an international consensus
Girardet, Anne (Unité INSERM U827)
Viart, Victoria (Unité INSERM U827)
Plaza, Stéphanie (Unité INSERM U827)
Daina Noves, Gemma (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
De Rycke, Martine (Center for Medical Genetics UZ Brussel)
Des Georges, Marie (Unité INSERM U827)
Fiorentino, Francesco (Genoma Laboratories)
Harton, Gary (Reprogenetics)
Ishmukhametova, Aliya (Unité INSERM U827)
Navarro i Ferreté, Joaquima (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Raynal, Caroline (Unité INSERM U827)
Renwick, Pamela (Center for Preimplantation Genetic Diagnosis, Guy's and St Thomas' NHS Foundation Trust)
Saguet, Florielle (Unité INSERM U827)
Schwarz, Martin (Manchester Centre for Genomic Medicine)
SenGupta, Sioban (UCL Center for PGD, Institute for Women's Health, University College London)
Tzetis, Maria (Department of Medical Genetics, University of Athens)
Roux, Anne-Françoise (Unité INSERM U827)
Claustres, Mireille (Unité INSERM U827)

Data: 2015
Resum: Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to consider termination of pregnancy. However, there are no available standardized protocols, so that each center has to develop its own diagnostic strategies and procedures. Furthermore, reproductive decisions are complicated by the diversity of disease-causing variants in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and the complexity of correlations between genotypes and associated phenotypes, so that attitudes and practices toward the risks for future offspring can vary greatly between countries. On behalf of the EuroGentest Network, eighteen experts in PGD and/or molecular diagnosis of CF from seven countries attended a workshop held in Montpellier, France, on 14 December 2011. Building on the best practice guidelines for amplification-based PGD established by ESHRE (European Society of Human Reproduction and Embryology), the goal of this meeting was to formulate specific guidelines for CF-PGD in order to contribute to a better harmonization of practices across Europe. Different topics were covered including variant nomenclature, inclusion criteria, genetic counseling, PGD strategy and reporting of results. The recommendations are summarized here, and updated information on the clinical significance of CFTR variants and associated phenotypes is presented.
Ajuts: European Commission 261469
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades. Creative Commons
Llengua: Anglès
Document: article ; recerca ; Versió publicada
Publicat a: European Journal of Human Genetics, Vol. 24 (May 2015) , p. 469-478, ISSN 1476-5438

DOI: 10.1038/ejhg.2015.99
PMID: 26014425

10 p, 459.9 KB

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