DOI

  • Joke Muys
  • Bettina Blaumeiser
  • Yves Jacquemyn
  • Claude Bandelier
  • Nathalie Brison
  • Saskia Bulk
  • Patrizia Chiarappa
  • Winnie Courtens
  • Anne De Leener
  • Julie Désir
  • Anne Destree
  • Koenraad Devriendt
  • Annelies Dheedene
  • Erik Fransen
  • Jean-Stéphane Gatot
  • Philip Holmgren
  • Mauricette Jamar
  • Sandra Janssens
  • Damien Lederer
  • Björn Menten
  • Marije Meuwissen
  • Benoit Parmentier
  • Bruno Pichon
  • Sonia Rombout
  • Yves Sznajer
  • Kris Van Den Bogaert
  • Olivier Vanakker
  • Joris Vermeesch
  • Katrien Janssens

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.

Original languageEnglish
Pages (from-to)1120-1128
Number of pages9
JournalPrenatal Diagnosis
Volume38
Issue number13
Early online date2018
DOIs
Publication statusPublished - Dec 2018

ID: 39985592