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

Olivier Vanakker; Catheline Vilain; Katrien Janssens; Nathalie Van der Aa; Guillaume Smits; Claude Bandelier; Bettina Blaumeiser; Saskia Bulk; Jean-Hubert Caberg; Anne De Leener; Marjan De Rademaeker; Thomy de Ravel; Julie Desir; Anne Destree; Annelies Dheedene; Stéphane Gaillez; Bernard Grisart; Ann-Cécile Hellin; Sandra Janssens; Kathelijn Keymolen; Björn Menten; Bruno Pichon; Marie Ravoet; Nicole Revencu; Sonia Rombout; Catherine Staessens; Ann Van Den Bogaert; Kris Van Den Bogaert; Joris R Vermeesch; Frank Kooy; Yves Sznajer; Koen Devriendt

doi:10.1016/j.ejmg.2014.02.002

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

Eur J Med Genet. 2014 Mar;57(4):151-6. doi: 10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15.

Authors

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

Affiliations

¹ Center for Medical Genetics, Universiteit Gent, Belgium.
² Center for Medical Genetics, Université Libre de Bruxelles, Belgium.
³ Center for Medical Genetics, Universiteit Antwerpen, Belgium.
⁴ Center for Medical Genetics, Université Catholique de Louvain, Belgium.
⁵ Center for Medical Genetics, Université de Liège, Belgium.
⁶ Center for Medical Genetics, Vrije Universiteit Brussel, Belgium.
⁷ Center for Medical Genetics, Katholieke Universiteit Leuven, Belgium.
⁸ Center for Medical Genetics, IPG, Charleroi Gosselies, Belgium.
⁹ Center for Medical Genetics, Katholieke Universiteit Leuven, Belgium. Electronic address: [email protected].

PMID: 24534801
DOI: 10.1016/j.ejmg.2014.02.002

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.

Publication types

Review

MeSH terms

Belgium
Comparative Genomic Hybridization / methods*
Consensus
Female
Fetal Diseases / diagnosis*
Fetal Diseases / genetics*
Humans
Oligonucleotide Array Sequence Analysis / methods*
Practice Guidelines as Topic
Pregnancy
Prenatal Diagnosis / methods*