Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA. (6th February 2014)

• Record Type: Journal Article
• Authors: Buysse, Karen; de, Joep; Janssen, Irene M.; van, Bregje W. M.; Gomes, Ingrid; Hehir‐Kwa, Jayne; Eggink, Alex J.; van, John M. G.; Vissers, Lisenka E. L. M.; Geurts van Kessel, Ad; Faas, Brigitte H. W.
• Is Part Of: Prenatal diagnosis. Volume 34:Number 4(2014:Apr.)
• Page Start: 402
• Page End: 405
• Publication Date: 2014-02-06
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4312
• 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="pd4312-list-0001" list-type="bullet"> <list-item id="pd4312-li-0001"> <p>Noninvasive prenatal detection of fetal aneuploidies by massively parallel sequencing of circulating cell‐free fetal DNA has recently become widely available.</p> </list-item> <list-item id="pd4312-li-0002"> <p>Few studies report the detection of submicroscopic chromosomal aberrations.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4312-list-0002" list-type="bullet"> <list-item id="pd4312-li-0003"> <p>A ~400 kb gain and a ~27 Mb loss were detected on chromosome 13q by genomic microarray analysis of amniocyte DNA. Testing circulating cell‐free fetal DNA not only revealed the same loss but also a much larger gain (~12 Mb), indicating discrepancies between DNA of true fetal and placental origin.</p> </list-item> <list-item id="pd4312-li-0004"> <p>The use of a windowed approach is recommended in case of unexpected 'whole chromosome' noninvasive prenatal testing results and/or when fetal anomalies are suggestive for subchromosomal aberrations.</p> </list-item> </list> </p> </abstract>