The Belgian MicroArray Prenatal (BEMAPRE) database [Online Abstract]

Abstract

Objectives : Since 2013, samples for prenatal diagnosis in Belgium are analysed by Chromosomal Microarray Analysis. Interpretation of prenatal copy number variants (CNV) remains difficult given the limited phenotypic information. An Ad Hoc Committee tries to resolve uncertain cases based on literature and experiences with similar variants. A Belgian MicroArray Prenatal (BEMAPRE) database studies the association between laboratory, ultrasound and postnatal data. Method : Our database was customised in consultation with the Centers for Medical Genetics to import, consult and extract genotype-phenotype data. Prenatal cases in which a pathogenic CNV/UV(unclassified variant) >400kb was detected, are imported. Phenotypic data are added postpartum and at the age of 2-3 years. Meta-analysis is performed based on genotype-phenotype data from hundreds of cases. Results : Reporting policy is determined by classification of CNVs (benign, UV and pathogenic). If UVs have intragenic deletions/duplications in a known gene; are mentioned in literature and/or databases; consist of deletions/duplications covering more than 18 genes or comprise an X-linked gene in a XY fetus, likeliness of pathogenicity is evaluated. In case of strong arguments for pathogenicity, parents are tested. They are reported if parental phenotype is potentially divergent or if de novo. Known pathogenic variants, risk factors with high penetrance or ultrasound anomalies and actionable incidental findings are reported. Since 2013, 7875 arrays were performed; 293 (3.72 %) were reported as pathogenic. Conclusions : The BEMAPRE database is a source of scientific, clinical and ethical studies; allows easy communication among Belgian genetic centers and will be made available to other scientists. Most recent data are presented