Title: Array-based approaches in prenatal diagnosis
Authors: Brady, Paul
Devriendt, Koenraad
Deprest, Jan
Vermeesch, Joris
Issue Date: 2012
Publisher: Springer Science
Host Document: Genomic Structural Variants: Methods and Protocols. Series: Methods in Molecular Biology vol. 838 pages:151-171
Article number: 7
Abstract: The diagnostic benefits of array comparative genomic hybridisation (CGH) have been demonstrated, with this technique now being applied as the first-line test for patients with intellectual disabilities and/or multiple congenital anomalies in numerous laboratories. There are no technical barriers preventing the introduction of array CGH to prenatal diagnosis. The question is rather how this is best implemented, and for whom. The challenges lie in the interpretation of copy number variations, particularly those which exhibit reduced penetrance or variable expression, and how to deal with incidental findings, which are not related to the observed foetal anomalies, or unclassified variants which are currently of uncertain clinical significance. Recently, applications of array technologies to the field of pre-implantation genetic diagnosis have also been demonstrated. It is important to address the ethical questions raised concerning the genome-wide analysis of prenatal samples to ensure the maximum benefit for patients. We provide an overview of the recent developments on the use of array CGH in the prenatal setting, and address the challenges posed.
ISSN: 1064-3745
Publication status: published
KU Leuven publication type: IHb
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research

Files in This Item:
File Description Status SizeFormat
Brady.pdfpublisher's version pdf Published 678KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.