title: The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
abstract: 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.
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Faculté de Médecine, Université Montpellier I, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Girardet
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Victoria
authors.initials: V
authors.lastname: Viart
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Plaza
authors.affiliation: Unitat de Biologia Cellular i Genetica Medica, Universitat Autonoma de Barcelona, Bellaterra, Spain.
authors.forename: Gemma
authors.initials: G
authors.lastname: Daina
authors.affiliation: Center for Medical Genetics UZ Brussel, Brussels, Belgium.
authors.forename: Martine
authors.initials: M
authors.lastname: De Rycke
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Des Georges
authors.affiliation: Genoma Laboratories, Via di Castel Giubileo, Roma, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Fiorentino
authors.affiliation: Reprogenetics, Livingston, NJ, USA.
authors.forename: Gary
authors.initials: G
authors.lastname: Harton
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Aliya
authors.initials: A
authors.lastname: Ishmukhametova
authors.affiliation: Unitat de Biologia Cellular i Genetica Medica, Universitat Autonoma de Barcelona, Bellaterra, Spain.
authors.forename: Joaquima
authors.initials: J
authors.lastname: Navarro
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Raynal
authors.affiliation: Center for Preimplantation Genetic Diagnosis, Guy's and St Thomas' NHS Foundation Trust, Great Maze Pond, London, UK.
authors.forename: Pamela
authors.initials: P
authors.lastname: Renwick
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Florielle
authors.initials: F
authors.lastname: Saguet
authors.affiliation: Manchester Centre for Genomic Medicine, Manchester, UK.
authors.forename: Martin
authors.initials: M
authors.lastname: Schwarz
authors.affiliation: UCL Center for PGD, Institute for Women's Health, University College London, London, UK.
authors.forename: Sioban
authors.initials: S
authors.lastname: SenGupta
authors.affiliation: Department of Medical Genetics, University of Athens, Greece.
authors.forename: Maria
authors.identifier: http://orcid.org/0000-0002-6810-2922
authors.initials: M
authors.lastname: Tzetis
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Anne-Françoise
authors.initials: AF
authors.lastname: Roux
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.|Faculté de Médecine, Université Montpellier I, Montpellier, France.|Unité INSERM U827, Montpellier, France.
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005820:Genetic Testing / Q000379:methods* / Q000592:standards; D006801:Humans; D007391:International Cooperation; D019836:Preimplantation Diagnosis / Q000379:methods* / Q000592:standards
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator