{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:57:16Z","timestamp":1760147836626,"version":"build-2065373602"},"reference-count":47,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T00:00:00Z","timestamp":1678147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal anomalies with high clinical sensitivity and specificity. In approximately 0.1% of clinical cases, the NIPT result and a subsequent diagnostic karyotype are discordant. Here we report a case of a 32-year-old pregnant patient with a 44.1 Mb duplication on the short arm of chromosome 4 detected by NIPT at 12 weeks\u2019 gestation. Amniocentesis was carried out at 18 weeks\u2019 gestation, followed by conventional and molecular cytogenetic analysis on cells from the amniotic fluid. SNP array analysis found a de novo deletion of 1.2 Mb at chromosome 4, and this deletion was found to be near the critical region of the Wolf-Hirschhorn syndrome. A normal 46,XY karyotype was identified by G-banding analysis. The patient underwent an elective termination and molecular investigations on tissues from the fetus, and the placenta confirmed the presence of type VI true fetal mosaicism. It is important that a patient receives counselling following a high-risk call on NIPT, with appropriate diagnostic analysis advised before any decisions regarding the pregnancy are taken. This case highlights the importance of genetic counselling following a high-risk call on NIPT, especially in light of the increasing capabilities of NIPT detection of sub-chromosomal deletions and duplications.<\/jats:p>","DOI":"10.3390\/genes14030668","type":"journal-article","created":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T03:29:05Z","timestamp":1678246145000},"page":"668","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0553-2087","authenticated-orcid":false,"given":"Luigia","family":"De Falco","sequence":"first","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppina","family":"Vitiello","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies, Federico II University Hospital, Via Pansini 5, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Savarese","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Suero","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pasquale","family":"Savarese","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Ianniello","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Petrillo","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariasole","family":"Bruno","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonietta","family":"Legnante","sequence":"additional","affiliation":[{"name":"Department of Public Health, University of Naples \u201cFederico II\u201d, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6707-9847","authenticated-orcid":false,"given":"Francesco Fioravanti","family":"Passaretti","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies, Federico II University Hospital, Via Pansini 5, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmela","family":"Ardisia","sequence":"additional","affiliation":[{"name":"CRR Genetica Medica, Azienda Ospedaliera s. Maria della Misericordia, 06156 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6485-5735","authenticated-orcid":false,"given":"Attilio","family":"Di Spiezio Sardo","sequence":"additional","affiliation":[{"name":"Department of Public Health, University of Naples \u201cFederico II\u201d, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Fico","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, Via Cuma, 80132 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1056\/NEJMoa1407349","article-title":"Cell-free DNA Analysis for Noninvasive Examination of Trisomy","volume":"372","author":"Norton","year":"2015","journal-title":"N. 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