Title: Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
Authors: Brison, Nathalie
Van Den Bogaert, Kris
Dehaspe, Luc
van den Oever, Jessica ME
Janssens, Katrien
Blaumeiser, Bettina
Peeters, Hilde
Van Esch, Hilde
Van Buggenhout, Griet
Vogels A, Annick
de Ravel de l'Argentière, Thomy
Legius E, Eric
Devriendt, Koenraad
Vermeesch, Joris # ×
Issue Date: Sep-2016
Publisher: Williams & Wilkins
Series Title: Genetics in Medicine vol:Ahead of print
Article number: 10.1038/gim.2016.113
Abstract: Genome-wide sequencing of cell-free (cf)DNA of pregnant women aims to detect fetal chromosomal imbalances. Because the largest fraction of cfDNA consists of maternal rather than fetal DNA fragments, maternally derived copy-number variants (CNVs) are also measured. Despite their potential clinical relevance, current analyses do not interpret maternal CNVs. Here, we explore the accuracy and clinical value of maternal CNV analysis.
ISSN: 1098-3600
Publication status: accepted
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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