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Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses
I. Zedníková, B. Chylíková, O. Šeda, M. Korabečná, E. Pazourková, M. Břešťák, M. Krkavcová, P. Calda, A. Hořínek
Language English Country Netherlands
Document type Journal Article
Grant support
RVO-VFN 64165
Ministerstvo Zdravotnictví Ceské Republiky
Progres Q25/LF1
Univerzita Karlova v Praze
NLK
ProQuest Central
from 1997-01-01 to 1 year ago
Medline Complete (EBSCOhost)
from 2011-01-01 to 1 year ago
Health & Medicine (ProQuest)
from 1997-01-01 to 1 year ago
- MeSH
- Genome-Wide Association Study methods MeSH
- Adult MeSH
- Down Syndrome genetics MeSH
- Gene Expression genetics MeSH
- Plasma chemistry MeSH
- Real-Time Polymerase Chain Reaction MeSH
- Humans MeSH
- MicroRNAs blood genetics MeSH
- Pilot Projects MeSH
- Fetus metabolism MeSH
- Prenatal Diagnosis methods MeSH
- Pregnancy Trimester, First blood MeSH
- Oligonucleotide Array Sequence Analysis methods MeSH
- Gene Expression Profiling methods MeSH
- Pregnancy MeSH
- Pregnant People MeSH
- Transcriptome genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Down syndrome (DS) is one of the most common causes of intellectual disability and new approaches allowing its rapid and effective prenatal detection are being explored. In this study, we investigated the diagnostic potential of plasma microRNAs (miRNAs). This study builds upon our previous study in DS placentas, where seven miRNAs were found to be significantly up-regulated. A total of 70 first-trimester plasma samples from pregnant women were included in the present study (35 samples with DS fetuses; 35 with euploid fetuses). Genome-wide miRNA profiling was performed in the pilot study using Affymetrix GeneChipTM miRNA 4.1 Array Strips (18 samples). Selected miRNAs were then analysed in the validation study using quantitative reverse transcription PCR (RT-qPCR; 52 samples). Based on the current pilot study results (12 miRNAs), our previous research on chorionic villi samples (7 miRNAs) and the literature (4 miRNAs), a group of 23 miRNAs was selected for the validation study. Although the results of the pilot study were promising, the validation study using the more sensitive RT-qPCR technique and a larger group of samples revealed no significant differences in miRNA profiles between the compared groups. Our results suggest that testing of the first-trimester plasma miRNAs is probably not suitable for non-invasive prenatal testing (NIPT). Different results could be theoretically achieved at later gestational ages; however, such a result probably would have limited use in clinical practice.
References provided by Crossref.org
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