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Wiley, Prenatal Diagnosis, 1(34), p. 98-101, 2013

DOI: 10.1002/pd.4255

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Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization

Journal article published in 2013 by Evangelia Karampetsou, Deborah Morrogh, Terry Ballard, Jonathan J. Waters, Nicholas Lench, Lyn S. Chitty ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

What's already known about this topic? Use of microarray for prenatal diagnosis increases the detection of pathogenic chromosomal rearrangements. CPM is a well-established phenomenon occurring in 1-2% of CVS. What does this study add? CPM can occur for submicroscopic copy number changes detected by array CGH in DNA from uncultured CVS. In order to minimise the risk of false-positive results in these cases, detected copy number changes should be confirmed in a different source of material, such as cultured cells.