| Literature DB >> 24534801 |
Olivier Vanakker1, Catheline Vilain2, Katrien Janssens3, Nathalie Van der Aa3, Guillaume Smits2, Claude Bandelier4, Bettina Blaumeiser3, Saskia Bulk5, Jean-Hubert Caberg5, Anne De Leener2, Marjan De Rademaeker6, Thomy de Ravel7, Julie Desir8, Anne Destree8, Annelies Dheedene1, Stéphane Gaillez5, Bernard Grisart8, Ann-Cécile Hellin5, Sandra Janssens1, Kathelijn Keymolen6, Björn Menten1, Bruno Pichon2, Marie Ravoet4, Nicole Revencu4, Sonia Rombout8, Catherine Staessens6, Ann Van Den Bogaert6, Kris Van Den Bogaert7, Joris R Vermeesch7, Frank Kooy3, Yves Sznajer4, Koen Devriendt9.
Abstract
After their successful introduction in postnatal testing, genome-wide arrays are now rapidly replacing conventional karyotyping in prenatal diagnostics. While previous studies have demonstrated the advantages of this method, we are confronted with difficulties regarding the technology and the ethical dilemmas inherent to genomic arrays. These include indication for testing, array design, interpretation of variants and how to deal with variants of unknown significance and incidental findings. The experiences with these issues reported in the literature are most often from single centres. Here, we report on a national consensus approach how microarray is implemented in all genetic centres in Belgium. These recommendations are subjected to constant re-evaluation based on our growing experience and can serve as a useful tool for those involved in prenatal diagnosis.Keywords: Copy number variant; Guidelines; Incidental finding; Prenatal diagnosis; Prenatal microarray; Variant of unknown significance
Mesh：
Year: 2014 PMID： 24534801 DOI： 10.1016/j.ejmg.2014.02.002
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708