Girardet, A;
Viart, V;
Plaza, S;
Daina, G;
De Rycke, M;
Des Georges, M;
Fiorentino, F;
... Claustres, M; + view all
(2015)
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
European Journal Of Human Genetics
, 2016
(24)
pp. 469-478.
10.1038/ejhg.2015.99.
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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.
| Type: | Article |
|---|---|
| Title: | The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/ejhg.2015.99 |
| Publisher version: | http://dx.doi.org/10.1038/ejhg.2015.99 |
| Language: | English |
| Additional information: | © 2016 Macmillan Publishers Limited. This work is licensed under a Creative Commons Attribution-Non Commercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, Eshre Pgd Consortium, External Quality Assessment, Conductance Regulator Gene, Cftr-related Disorders, Mutation Nomenclature, Clinical-application, Vas-deferens, Recommendations, Amplification, Experience |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health > Reproductive Health |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1480575 |
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