Title: The introduction of arrays in prenatal diagnosis: A special challenge
Authors: Vetro, Annalisa ×
Bouman, Katelijne
Hastings, Ros
McMullan, Dominic J
Vermeesch, Joris
Miller, Konstantin
Sikkema-Raddatz, Birgit
Ledbetter, David H
Zuffardi, Orsetta
van Ravenswaaij-Arts, Conny M A #
Issue Date: Jun-2012
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:33 issue:6 pages:923-929
Article number: 10.1002/humu.22050
Abstract: Genome-wide arrays are rapidly replacing conventional karyotyping in postnatal cytogenetic diagnostics and there is a growing request for arrays in the prenatal setting. Several studies have documented 1-3% additional abnormal findings in prenatal diagnosis with arrays compared to conventional karyotyping. A recent meta-analysis demonstrated that 5.2% extra diagnoses can be expected in fetuses with ultrasound abnormalities. However, no consensus exists as to whether the use of genome-wide arrays should be restricted to pregnancies with ultrasound abnormalities, performed in all women undergoing invasive prenatal testing or offered to all pregnant women. Moreover, the interpretation of array results in the prenatal situation is challenging due to the large numbers of copy number variants with no major phenotypic effect. This also raises the question of what, or what not to report, for example, how to deal with unsolicited findings. These issues were discussed at a working group meeting that preceded the European Society of Human Genetics 2011 Conference in Amsterdam. This article is the result of this meeting and explores the introduction of genome-wide arrays into routine prenatal diagnosis. We aim to give some general recommendations on how to develop practical guidelines that can be implemented in the local setting and that are consistent with the emerging international consensus. Hum Mutat 33:923-929, 2012. © 2012 Wiley Periodicals, Inc.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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