MicroRNAs as potential biomarkers for noninvasive detection of fetal trisomy 21

Lim, Ji Hyae; Lee, Da Eun; Kim, Shin Young; Kim, Hyun Jin; Kim, Kyeong Sun; Han, You Jung; Kim, Min Hyoung; Choi, Jun Seek; Kim, Moon Young; Ryu, Hyun Mee; Park, So Yeon

doi:10.1007/s10815-015-0429-y

Cited by 25 publications

(15 citation statements)

References 33 publications

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“…An analysis of 14 miRNAs encoded by chromosome 21 showed that miR-125b-2, miR-155 and miR-3156 isolated from amniotic fluid are present in significantly higher levels in pregnant women with Down's syndrome foetuses [69]. 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].…”

Section: Circulating Mirnas In Pregnant Women With Down's Syndromementioning

confidence: 99%

“…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.…”

Section: Circulating Mirnas In Pregnant Women With Down's Syndromementioning

confidence: 99%

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

Yang

Wang

et al. 2020

J Transl Med

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During pregnancy in humans, the physiology of the mother and foetus are finely regulated by many factors. Inappropriate regulation can result in pregnancy disorders, such as complications and foetal abnormalities. The early prediction or accurate diagnosis of related diseases is a concern of researchers. Liquid biopsy can be analysed for circulating cells, cell-free nucleic acids, and exosomes. Because exosomes can be detected in the peripheral blood of women in early pregnancy, these vesicles and their contents have become the focus of early prediction or diagnostic biomarker research on pregnancy complications and foetal developmental disorders. In this review, we focus on recent studies addressing the roles of peripheral blood exosomes and circulating miRNAs in pregnancy complications and in pregnancies with abnormal foetal developmental disorders, with particular attention paid to the potential application value of exosomes and circulating miRNAs as disease-specific biomarkers.

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Section: Circulating Mirnas In Pregnant Women With Down's Syndromementioning

confidence: 99%

Section: Circulating Mirnas In Pregnant Women With Down's Syndromementioning

confidence: 99%

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

Yang

Wang

et al. 2020

J Transl Med

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“…A total of 23 miRNAs were selected for the validation study (Table 1). Apart from the 12 miRNAs identified in the pilot study, the selection was based on the results of our previous study on placenta samples (seven miRNAs) and the results of the current pilot study in combination with information in the literature (four miRNAs) [28,[32][33][34][35].…”

Section: Validation Studymentioning

confidence: 99%

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

et al. 2020

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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 noninvasive 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.

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“…[5,6] Accordingly, novel biomarkers for the improvement of efficiency and accuracy in the diagnosis of fetal CHD are needed in combination with conventional fetal echocardiography. [7,8] In the new era of non-invasive prenatal tests, potential biomarkers such as microRNAs, [9,10] proteins, [11] and the merging fetal cells [12] in maternal circulation that will cause minimum risk to fetus are easily accepted. [13] MicroRNAs are a class of non-coding RNAs of approximately 22 nucleotides in length.…”

Section: Introductionmentioning

confidence: 99%

Circulating microRNAs as potential biomarkers for diagnosis of congenital heart defects

Xie¹,

Zhou²,

Chen³

et al. 2016

World Journal of Emergency Medicine

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MicroRNAs as potential biomarkers for noninvasive detection of fetal trisomy 21

Abstract: Our study indicates placenta-specific miRNAs that may be potential biomarkers for NIPT of fetal T21 and provides new insights into the molecular mechanisms of T21 via regulation of miRNAs.

Cited by 25 publications

References 33 publications

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

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

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

Circulating microRNAs as potential biomarkers for diagnosis of congenital heart defects

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