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Title: Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
Authors: Bayindir, Baran
Dehaspe, Luc
Brison, Nathalie
Brady, Paul
Ardui, Simon
Kammoun, Molka
Van der Veken, Lars
Lichtenbelt, Klaske
Van den Bogaert, Kris
Van Houdt, Jeroen
Peeters, Hilde
Van Esch, Hilde
de Ravel, Thomy
Legius, Eric
Devriendt, Koenraad
Vermeesch, Joris # ×
Issue Date: Jan-2015
Publisher: Karger
Series Title: European Journal of Human Genetics vol:23 pages:1286-1293
Article number: 10.1038/ejhg.2014.282
Abstract: Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test results remain. Here, we present an analysis pipeline, which addresses some of the technical as well as the biologically derived causes of error. Most importantly, it differentiates high z-scores due to fetal trisomies from those due to local maternal CNVs causing false positives. This pipeline was retrospectively validated for trisomy 18 and 21 detection on 296 samples demonstrating a sensitivity and specificity of 100%, and applied prospectively to 1350 pregnant women in the clinical diagnostic setting with a result reported in 99.9% of cases. In addition, values indicative for trisomy were observed two times for chromosome 7 and once each for chromosomes 15 and 16, and once for a segmental trisomy 18. Two of the trisomies were confirmed to be mosaic, one of which contained a uniparental disomy cell line. As placental trisomies pose a risk for low-grade fetal mosaicism as well as uniparental disomy, genome-wide noninvasive aneuploidy detection is improving prenatal management.European Journal of Human Genetics advance online publication, 14 January 2015; doi:10.1038/ejhg.2014.282.
URI: 
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
× corresponding author
# (joint) last author

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