{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T18:19:09Z","timestamp":1771006749964,"version":"3.50.1"},"reference-count":43,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,11,14]],"date-time":"2021-11-14T00:00:00Z","timestamp":1636848000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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\u00ae NIPT with a normal fetal karyotype were studied. Six with a cfDNAff &lt; 4% were matched with a control group with normal levels of cfDNAff &gt; 4%. Samples were processed using the nanostring nCounter\u00ae 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.<\/jats:p>","DOI":"10.3390\/diagnostics11112108","type":"journal-article","created":{"date-parts":[[2021,11,14]],"date-time":"2021-11-14T20:48:36Z","timestamp":1636922916000},"page":"2108","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (&lt;4%) Cell-Free DNA Fetal Fraction"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6459-5846","authenticated-orcid":false,"given":"Graziano","family":"Santoro","sequence":"first","affiliation":[{"name":"Genetic Unit, Synlab, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Lapucci","sequence":"additional","affiliation":[{"name":"Genetic Unit, Synlab, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Giannoccaro","sequence":"additional","affiliation":[{"name":"Genetic Unit, Synlab, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Caporilli","sequence":"additional","affiliation":[{"name":"Genetic Unit, Synlab, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3012-2653","authenticated-orcid":false,"given":"Martina","family":"Rusin","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Prenatal Medicine, Department of Medicine and Surgery (DIMEC), IRCCS Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Seidenari","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Prenatal Medicine, Department of Medicine and Surgery (DIMEC), IRCCS Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Ferrari","sequence":"additional","affiliation":[{"name":"IRCCS, SDN, Via Gianturco 113, 80143 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6862-1810","authenticated-orcid":false,"given":"Antonio","family":"Farina","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Prenatal Medicine, Department of Medicine and Surgery (DIMEC), IRCCS Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,14]]},"reference":[{"key":"ref_1","first-page":"6370","article-title":"Experimental factors are associated with fetal fraction in size selection noninvasive prenatal testing","volume":"11","author":"Qiao","year":"2019","journal-title":"Am. 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