Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction
The present pilot study investigates whether an abnormal miRNA profile in NIPT plasma samples can explain the finding of a low cell-free DNA (cfDNA) fetal fraction (cfDNAff) in euploid fetuses and non-obese women. Twelve women who underwent neoBona<sup>®</sup> NIPT with a normal fetal ka...
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MDPI AG
2021-11-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/11/2108 |
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| author | Graziano Santoro Cristina Lapucci Marco Giannoccaro Simona Caporilli Martina Rusin Anna Seidenari Maurizio Ferrari Antonio Farina |
| author_facet | Graziano Santoro Cristina Lapucci Marco Giannoccaro Simona Caporilli Martina Rusin Anna Seidenari Maurizio Ferrari Antonio Farina |
| author_sort | Graziano Santoro |
| collection | DOAJ |
| description | The present pilot study investigates whether an abnormal miRNA profile in NIPT plasma samples can explain the finding of a low cell-free DNA (cfDNA) fetal fraction (cfDNAff) in euploid fetuses and non-obese women. Twelve women who underwent neoBona<sup>®</sup> NIPT with a normal fetal karyotype were studied. Six with a cfDNAff < 4% were matched with a control group with normal levels of cfDNAff > 4%. Samples were processed using the nanostring nCounter<sup>®</sup> platform with a panel of 800 miRNAs. Four of the maternal miRNAs, miR-579, miR-612, miR-3144 and miR-6721, had a significant abnormal expression in patients. A data filtering analysis showed that miR-579, miR-612, miR-3144 and miR-6721 targeted 169, 1, 48 and 136 placenta-specific genes, respectively. miR-579, miR-3144 and miR-6721 shared placenta-specific targeted genes involved in trophoblast invasion and migration pathways (IGF2R, PTCD2, SATB2, PLAC8). Moreover, the miRNA target genes encoded proteins localized in the placenta and involved in the pathogenesis of pre-eclampsia, including chorion-specific transcription factor GCMa, PRG2, Lin-28 Homolog B and IGFBP1. In conclusion, aberrant maternal miRNA expression in circulating plasma could be a source of dysregulating trophoblast invasion and migration and could represent a novel cause of a low cfDNAff in the sera of pregnant women at the time of NIPT analysis. |
| first_indexed | 2024-03-10T05:34:10Z |
| format | Article |
| id | doaj.art-2a8e843759b243ffb7628b3a5e8c65e1 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T05:34:10Z |
| publishDate | 2021-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-2a8e843759b243ffb7628b3a5e8c65e12023-11-22T23:02:28ZengMDPI AGDiagnostics2075-44182021-11-011111210810.3390/diagnostics11112108Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal FractionGraziano Santoro0Cristina Lapucci1Marco Giannoccaro2Simona Caporilli3Martina Rusin4Anna Seidenari5Maurizio Ferrari6Antonio Farina7Genetic Unit, Synlab, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, ItalyGenetic Unit, Synlab, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, ItalyGenetic Unit, Synlab, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, ItalyGenetic Unit, Synlab, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, ItalyDivision of Obstetrics and Prenatal Medicine, Department of Medicine and Surgery (DIMEC), IRCCS Sant’Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, ItalyDivision of Obstetrics and Prenatal Medicine, Department of Medicine and Surgery (DIMEC), IRCCS Sant’Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, ItalyIRCCS, SDN, Via Gianturco 113, 80143 Naples, ItalyDivision of Obstetrics and Prenatal Medicine, Department of Medicine and Surgery (DIMEC), IRCCS Sant’Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, ItalyThe present pilot study investigates whether an abnormal miRNA profile in NIPT plasma samples can explain the finding of a low cell-free DNA (cfDNA) fetal fraction (cfDNAff) in euploid fetuses and non-obese women. Twelve women who underwent neoBona<sup>®</sup> NIPT with a normal fetal karyotype were studied. Six with a cfDNAff < 4% were matched with a control group with normal levels of cfDNAff > 4%. Samples were processed using the nanostring nCounter<sup>®</sup> platform with a panel of 800 miRNAs. Four of the maternal miRNAs, miR-579, miR-612, miR-3144 and miR-6721, had a significant abnormal expression in patients. A data filtering analysis showed that miR-579, miR-612, miR-3144 and miR-6721 targeted 169, 1, 48 and 136 placenta-specific genes, respectively. miR-579, miR-3144 and miR-6721 shared placenta-specific targeted genes involved in trophoblast invasion and migration pathways (IGF2R, PTCD2, SATB2, PLAC8). Moreover, the miRNA target genes encoded proteins localized in the placenta and involved in the pathogenesis of pre-eclampsia, including chorion-specific transcription factor GCMa, PRG2, Lin-28 Homolog B and IGFBP1. In conclusion, aberrant maternal miRNA expression in circulating plasma could be a source of dysregulating trophoblast invasion and migration and could represent a novel cause of a low cfDNAff in the sera of pregnant women at the time of NIPT analysis.https://www.mdpi.com/2075-4418/11/11/2108miRNANIPTlow cell-free DNA (cfDNA) fetal fraction |
| spellingShingle | Graziano Santoro Cristina Lapucci Marco Giannoccaro Simona Caporilli Martina Rusin Anna Seidenari Maurizio Ferrari Antonio Farina Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction Diagnostics miRNA NIPT low cell-free DNA (cfDNA) fetal fraction |
| title | Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction |
| title_full | Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction |
| title_fullStr | Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction |
| title_full_unstemmed | Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction |
| title_short | Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction |
| title_sort | abnormal circulating maternal mirna expression is associated with a low 4 cell free dna fetal fraction |
| topic | miRNA NIPT low cell-free DNA (cfDNA) fetal fraction |
| url | https://www.mdpi.com/2075-4418/11/11/2108 |
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