Prenatal circulating microRNA signatures of foetal Down syndrome

Abstract

The altered expression pattern of miRNAs might potentially reflect anomalies related to foetal chromosomal aberrations. The aim of the study was to determine the expression level of miRNAs in plasma of pregnant women with foetal Down syndrome (DS). Out of 198 amniocentesis performed at 15–18 weeks of gestation, within a group of 12 patients with foetal DS and 12 patients with uncomplicated pregnancies, who delivered healthy newborns at term, we examined the expression level of 800 miRNAs using the NanoString technology. Our study revealed that there are 6 miRNAs were upregulated (hsa-miR-15a, hsa-let-7d, hsa-miR-142, hsa-miR-23a, hsa-miR-199, hsa-miR-191) and 7 were downregulated (hsa-miR-1290, hsa-miR-1915, hsa-miR30e, hsa-miR-1260, hsa-miR-483, hsa-miR-548, hsa-miR-590) in plasma samples of women with foetal DS syndrome. The genes regulated by identified miRNAs are involved in central nervous system development, congenital abnormalities and heart defects. The results of the present study yielded information on DS-specific miRNA expression signature, which can further help to design a panel of miRNAs as a non-invasive test for DS diagnosis. We believe that identified miRNAs may attend in the pathogenesis of DS and would potentially make a significant role for the future preventive therapies.

microRNA Expression Profile in Single Hormone Receptor-Positive Breast Cancers Is Mainly Dependent on HER2 Status—A Pilot Study

“…Extracted RNA (3 μl) was subjected to miRNA expression profiling with nCounter Human v3 miRNA Expression Assay (NanoString Technologies, Seattle, WA, USA) according to the manufacturer’s procedures for hybridization, detection, and scanning [ 13 ]. Raw NanoString expression data were submitted to the GEO database under GSE155362 accession number.…”

Clinical application of exosomes and circulating microRNAs in the diagnosis of pregnancy complications and foetal abnormalities

“…Additionally, microarray-based genomewide expression profiling has revealed that miR-1973 and miR-3196 are expressed at higher levels in trisomy 21 placentas than in euploid placentas [70]. Moreover, a comprehensive analysis of circulating miRNA expression levels to identify a prenatal peripheral blood miRNA signature in pregnant women with Down's syndrome foetus demonstrated that miR-15a, let-7d, miR-23a, miR-99a, miR-142, miR-191, miR-199 and miR-3156 are expressed at higher levels than in pregnant women with normal foetuses [70][71][72]. These findings validate that the study of circulating miRNAs in the peripheral blood of pregnant women can help to identify screening biomarkers for Down's syndrome.…”

Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses

“…Using a combination of three different normalisation strategies (corrected threshold cycle values, normalised relative quantities and a combination of both methods together) they found 36 miRNAs to be differentially expressed in DS versus control pregnancies, neither miR-99a nor miR-3156 were among them. The latest work on the topic was published by Zbucka-Kretowska et al [48]. They examined levels of 800 miRNAs using NanoString technology within 12 DS pregnancies and 12 controls.…”