Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy. (14th February 2014)

• Record Type: Journal Article
• Authors: Hall, Georgina K.; Mackie, Fiona L.; Hamilton, Susan; Evans, Alison; McMullan, Dominic J.; Williams, Denise; Allen, Stephanie; Kilby, Mark D.
• Is Part Of: Prenatal diagnosis. Volume 34:Number 5(2014:May)
• Page Start: 505
• Page End: 507
• Publication Date: 2014-02-14
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4333
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4333-list-0001" list-type="bullet"> <list-item id="pd4333-li-0001"> <p>Mosaic autosomal aneuploidies detected prenatally complicate genetic counselling, despite the presence of relevant ultrasound scan anomalies.</p> </list-item> <list-item id="pd4333-li-0002"> <p>Chromosomal microarray analysis is currently reported to detect mosaicism of between 10% and 30% prenatally.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4333-list-0002" list-type="bullet"> <list-item id="pd4333-li-0003"> <p>Chromosomal microarray analysis is effective in detecting low level mosaic autosomal aneuploidy in a prenatal setting, which traditional methods may fail to detect.</p> </list-item> <list-item id="pd4333-li-0004"> <p>This detection of low level mosaicism supports the use of chromosomal microarray analysis in prenatal diagnosis.</p> </list-item> </list> </p> </abstract>