Vanakker Olivier, Vilain Catheline, Janssens Katrien, Van der Aa Nathalie, Smits Guillaume, Bandelier Claude, Blaumeiser Bettina, Bulk Saskia, Caberg Jean-Hubert, De Leener Anne, De Rademaeker Marjan, de Ravel Thomy, Desir Julie, Destree Anne, Dheedene Annelies, Gaillez Stéphane, Grisart Bernard, Hellin Ann-Cécile, Janssens Sandra, Keymolen Kathelijn, Menten Björn, Pichon Bruno, Ravoet Marie, Revencu Nicole, Rombout Sonia, Staessens Catherine, Van Den Bogaert Ann, Van Den Bogaert Kris, Vermeesch Joris R, Kooy Frank, Sznajer Yves, Devriendt Koen
Center for Medical Genetics, Universiteit Gent, Belgium.
Center for Medical Genetics, Université Libre de Bruxelles, Belgium.
Eur J Med Genet. 2014 Mar;57(4):151-6. doi: 10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15.
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.
在全基因组阵列成功应用于产后检测后，如今在产前诊断中它正迅速取代传统的核型分析。尽管先前的研究已证明了该方法的优势，但我们在技术以及基因组阵列所固有的伦理困境方面仍面临困难。这些困难包括检测指征、阵列设计、变异解读以及如何处理意义未明的变异和偶然发现。文献中报道的关于这些问题的经验大多来自单一中心。在此，我们报告一种全国性的共识方法，即微阵列在比利时所有遗传中心的实施方式。基于我们不断积累的经验，这些建议会持续接受重新评估，可为参与产前诊断的人员提供有用的工具。
