Title: A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
Authors: Brady, Paul
Delle Chiaie, Barbara
Christenhusz, Gabrielle
Dierickx, Kris
Van Den Bogaert, Kris
Menten, Bjorn
Janssens, Sandra
Defoort, Paul
Roets, Ellen
Sleurs, Elke
Keymolen, Kathelijn
De Catte, Luc
Deprest, Jan
de Ravel de l'Argentière, Thomy
Van Esch, Hilde
Fryns, Jean-Pierre
Devriendt, Koenraad
Vermeesch, Joris # ×
Issue Date: Jun-2014
Publisher: Williams & Wilkins
Series Title: Genetics in Medicine vol:16 issue:6 pages:469-76
Article number: 10.1038/gim.2013.168
Abstract: Purpose:To evaluate the clinical utility of chromosomal microarrays for prenatal diagnosis by a prospective study of fetuses with abnormalities detected on ultrasound.Methods:Patients referred for prenatal diagnosis due to ultrasound anomalies underwent analysis by array comparative genomic hybridization as the first-tier diagnostic test.Results:A total of 383 prenatal samples underwent analysis by array comparative genomic hybridization. Array analysis revealed causal imbalances in a total of 9.6% of patients (n = 37). Submicroscopic copy-number variations were detected in 2.6% of patients (n = 10/37), and arrays added valuable information over conventional karyotyping in 3.9% of patients (n = 15/37). We highlight a novel advantage of arrays; a 500-kb paternal insertional translocation is the likely driver of a de novo unbalanced translocation, thus improving recurrence risk calculation in this family. Variants of uncertain significance were revealed in 1.6% of patients (n = 6/383).Conclusion:We demonstrate the added value of chromosomal microarrays for prenatal diagnosis in the presence of ultrasound anomalies. We advocate reporting back only copy-number variations with known pathogenic significance. Although this approach might be considered opposite to the ideal of full reproductive autonomy of the parents, we argue why providing all information to parents may result in a false sense of autonomy.Genet Med advance online publication 31 October 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.168.
ISSN: 1098-3600
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Cytogenetics and Genome Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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