For the Focus on CNV Detection with Diagnostic Arrays
The introduction of arrays in prenatal diagnosis: A special challenge†
Article first published online: 16 APR 2012
© 2012 Wiley Periodicals, Inc.
Special Issue: Focus on CNV Detection with Diagnostic Arrays
Volume 33, Issue 6, pages 923–929, June 2012
How to Cite
Vetro, A., Bouman, K., Hastings, R., McMullan, D. J., Vermeesch, J. R., Miller, K., Sikkema-Raddatz, B., Ledbetter, D. H., Zuffardi, O. and van Ravenswaaij-Arts, C. M.A. (2012), The introduction of arrays in prenatal diagnosis: A special challenge. Hum. Mutat., 33: 923–929. doi: 10.1002/humu.22050
- Issue published online: 7 MAY 2012
- Article first published online: 16 APR 2012
- Accepted manuscript online: 13 FEB 2012 11:57AM EST
- Manuscript Accepted: 3 FEB 2012
- Manuscript Received: 8 NOV 2011
- Prenatal diagnosis;
- genome-wide array analysis;
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.