Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses.
Adult
Down Syndrome
/ genetics
Female
Fetus
/ metabolism
Gene Expression
/ genetics
Gene Expression Profiling
/ methods
Genome-Wide Association Study
/ methods
Humans
MicroRNAs
/ blood
Oligonucleotide Array Sequence Analysis
/ methods
Pilot Projects
Plasma
/ chemistry
Pregnancy
Pregnancy Trimester, First
/ blood
Pregnant Women
Prenatal Diagnosis
/ methods
Real-Time Polymerase Chain Reaction
Transcriptome
/ genetics
Down syndrome
Fetal aneuploidy
Liquid biopsy
NIPT
Trisomy 21
miRNA
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
15
01
2020
accepted:
23
05
2020
pubmed:
31
5
2020
medline:
20
2
2021
entrez:
31
5
2020
Statut:
ppublish
Résumé
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 GeneChip™ 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.
Identifiants
pubmed: 32472298
doi: 10.1007/s11033-020-05545-w
pii: 10.1007/s11033-020-05545-w
pmc: PMC7295716
doi:
Substances chimiques
MicroRNAs
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
4531-4540Subventions
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : RVO-VFN 64165
Organisme : Univerzita Karlova v Praze
ID : Progres Q25/LF1
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