Proteomic profile determination of autosomal aneuploidies by mass spectrometry on amniotic fluids

Proteome Science
Alain MangeJérome Solassol

Abstract

Prenatal diagnosis of chromosomal abnormalities by cytogenetic analysis is time-consuming, expensive, and requires highly qualified technicians. Rapid diagnosis of aneuploidies followed by reassurance of women with normal results can be performed by molecular analysis of uncultured foetal cells. In the present study, we developed a proteomic fingerprinting approach coupled with a statistical classification method to improve diagnosis of aneuploidies, including trisomies 13, 18, and 21, in amniotic fluid samples. The proteomic spectra obtained from 52 pregnant women were compiled, normalized, and mass peaks with mass-to-charge ratios between 2.5 and 50 kDa identified. Peak information was combined together and analysed using univariate statistics. Among the 208 expressed protein peaks, 40 differed significantly between aneuploid and non aneuploid samples, with AUC diagnostic values ranging from 0.71 to 0.91. Hierarchical clustering, principal component analysis and support vector machine (SVM) analysis were performed. Two class predictor models were defined from the training set, which resulted in a prediction accuracy of 92.3% and 96.43%, respectively. Using an external and independent validation set, diagnostic accuracies were...Continue Reading

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Citations

Oct 22, 2010·Clinical Chemistry and Laboratory Medicine : CCLM·Chan-Kyung J Cho, Eleftherios P Diamandis
Jul 21, 2011·Veterinary Medicine International·Claire BarrySam Strain
Mar 2, 2011·Proteomics. Clinical Applications·Marzia PerluigiRaffaella Coccia
Apr 1, 2009·Journal of Proteomics·Aggeliki KolialexiGeorge Th Tsangaris
Feb 13, 2009·Expert Review of Proteomics·Mahesh ChoolaniSinuhe Hahn
May 19, 2011·Biological Research for Nursing·Robin B KnobelHenry E Rice
Apr 20, 2011·Expert Review of Proteomics·Aggeliki KolialexiGeorge Th Tsangaris
Jun 20, 2020·Scientific Reports·Akito IshikawaKazuyoshi Endo
Dec 6, 2020·Nature Communications·Samantha M GristAmy E Herr
Sep 2, 2009·Proteome Science·Gisele G TomazellaLewis J Greene

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Methods Mentioned

BETA
PCR
chip
chips
PCA
electrophoresis
surface-affinity chromatography
proteomic profiling

Software Mentioned

Excel
ProteinChip
ProteinChip and
Biomarkers Wizard
MultiExperiment Viewer
Biomarker Wizard

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