期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 57, 期 4, 页码 151-156出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2014.02.002
关键词
Prenatal microarray; Guidelines; Prenatal diagnosis; Copy number variant; Variant of unknown significance; Incidental finding
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. (C) 2014 Elsevier Masson SAS. All rights reserved.
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