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BioMed Research International
Volume 2014, Article ID 402475, 9 pages
http://dx.doi.org/10.1155/2014/402475
Research Article

Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21)

1Institute for Transfusion Medicine, Charité University Medicine, Augustenburger Platz 1, 13353 Berlin, Germany
2Research Center for Immune Science (RCIS), Charité University Medicine, Hessische Strasse 3-4, 10115 Berlin, Germany
3Institute for Human Genetics, Charité University Medicine, Augustenburger Platz 1, 13353 Berlin, Germany
4Clinical Pathology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt
5Systems Biology and Bioinformatics Laboratory, University of Algarve, Campus of Gambelas, 8005-139 Faro, Portugal
6Human Genetics Practice, Friedrichstraße 147, 10117 Berlin, Germany
7Prenatal Diagnosis and Human Genetics Centre, Friedrichstraße 147, 10117 Berlin, Germany

Received 14 June 2014; Accepted 9 September 2014; Published 12 November 2014

Academic Editor: Kui Li

Copyright © 2014 Julian Kamhieh-Milz et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Objectives. Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs). We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS) pregnancies. Methods. Using high-throughput quantitative PCR (HT-qPCR), 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls. Results. Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such as mucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS. Conclusions. miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS.