@article{8611045,
  abstract     = {{Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs.
Methods: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016.
Results: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test.
Conclusion: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype-phenotype correlation.}},
  author       = {{Muys, Joke and Blaumeiser, Bettina and Jacquemyn, Yves and Bandelier, Claude and Brison, Nathalie and Bulk, Saskia and Chiarappa, Patrizia and Courtens, Winnie and De Leener, Anne and De Rademaeker, Marjan and Desir, Julie and Destree, Anne and Devriendt, Koenraad and Dheedene, Annelies and Fieuw, Annelies and Fransen, Erik and Gatot, Jean-Stephane and Holmgren, Philip and Jamar, Mauricette and Janssens, Sandra and Keymolen, Kathelijn and Lederer, Damien and Menten, Björn and Meuwissen, Marije and Parmentier, Benoit and Pichon, Bruno and Rombout, Sonia and Sznajer, Yves and Van Den Bogaert, Ann and Van Den Bogaert, Kris and Vanakker, Olivier and Vermeesch, Joris and Janssens, Katrien}},
  issn         = {{0197-3851}},
  journal      = {{PRENATAL DIAGNOSIS}},
  keywords     = {{CHROMOSOMAL MICROARRAY,ULTRASOUND ABNORMALITIES,22Q11.2 DELETION,DIAGNOSIS,MICRODUPLICATIONS,MICRODELETIONS,VARIANTS,15Q11.2,FETUSES,IMPACT}},
  language     = {{eng}},
  number       = {{13}},
  pages        = {{1120--1128}},
  title        = {{The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations}},
  url          = {{http://doi.org/10.1002/pd.5373}},
  volume       = {{38}},
  year         = {{2018}},
}

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