Abstract
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.
Highlights
Trisomy 21 (Down syndrome; DS) is the most common chromosomal disorder with an incidence of about 1:1000 to 1:1100 live births worldwide [1]
The initial pilot study served to identify a wider panel of potentially dysregulated miRNAs in plasma of pregnant women with DS fetuses
There was a clear separation of the compared groups of samples based on principal component analysis (PCA) (Fig. 1)
Summary
Trisomy 21 (Down syndrome; DS) is the most common chromosomal disorder with an incidence of about 1:1000 to 1:1100 live births worldwide [1]. All DS patients suffer from cognitive impairment of various degree and craniofacial abnormalities. Other phenotypic characteristics, such as cardiovascular defects, childhood leukemia, gastrointestinal anomalies or early-onset Alzheimer’s disease, occur with various frequencies and exhibit interindividual heterogeneity [2]. Many studies have focused on gene expression in various DS biological samples (for example, fetal or placental tissues, amniotic fluid cells, fetal or maternal blood) and they have reached varied conclusions. Some of these expression studies have even concluded that Hsa genes
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