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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Autores principales:	Graziano Santoro, Cristina Lapucci, Marco Giannoccaro, Simona Caporilli, Martina Rusin, Anna Seidenari, Maurizio Ferrari, Antonio Farina
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	miRNA NIPT low cell-free DNA (cfDNA) fetal fraction Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/2a8e843759b243ffb7628b3a5e8c65e1
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spelling	oai:doaj.org-article:2a8e843759b243ffb7628b3a5e8c65e12021-11-25T17:21:41ZAbnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction10.3390/diagnostics111121082075-4418https://doaj.org/article/2a8e843759b243ffb7628b3a5e8c65e12021-11-01T00:00:00Zhttps://www.mdpi.com/2075-4418/11/11/2108https://doaj.org/toc/2075-4418The 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.Graziano SantoroCristina LapucciMarco GiannoccaroSimona CaporilliMartina RusinAnna SeidenariMaurizio FerrariAntonio FarinaMDPI AGarticlemiRNANIPTlow cell-free DNA (cfDNA) fetal fractionMedicine (General)R5-920ENDiagnostics, Vol 11, Iss 2108, p 2108 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	miRNA NIPT low cell-free DNA (cfDNA) fetal fraction Medicine (General) R5-920
spellingShingle	miRNA NIPT low cell-free DNA (cfDNA) fetal fraction Medicine (General) R5-920 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
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.
format	article
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
title	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_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_sort	abnormal circulating maternal mirna expression is associated with a low (<4%) cell-free dna fetal fraction
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/2a8e843759b243ffb7628b3a5e8c65e1
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Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction

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