lunes, 24 de febrero de 2014

Implementation of genomic arrays in prenatal... [Eur J Med Genet. 2014] - PubMed - NCBI

2014 Feb 14. pii: S1769-7212(14)00027-5. doi: 10.1016/j.ejmg.2014.02.002. [Epub ahead of print]

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

Vanakker O1, Vilain C2, Janssens K3, Van der Aa N3, Smits G2, Bandelier C4, Blaumeiser B3, Bulk S5, Caberg JH5, De Leener A2, De Raedemaker M6, de Ravel T7, Desir J8, Destree A8, Dheedene A1, Gaillez S5, Grisart B8, Hellin AC5, Janssens S1, Keymolen K6, Menten B1, Pichon B2, Ravoet M4, Revencu N4,Rombout S8, Staessens C6, Van Den Bogaert A6, Van Den Bogaert K7, Vermeesch JR7, Kooy F3, Snajer Y4, Devriendt K9.

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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.