{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T18:50:59Z","timestamp":1787943059364,"version":"build-2784847793"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T00:00:00Z","timestamp":1774396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T00:00:00Z","timestamp":1774396800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Pathogenic or likely pathogenic copy\u2010number variants (p\/lpCNVs) are a significant cause of perinatal morbidity and mortality. Current prenatal screening based on cell\u2010free DNA (cfDNA) fails to detect the majority of microimbalances (microdeletions\/microduplications), leaving a significant residual risk of undetected chromosomal abnormalities. This study evaluated the clinical performance of a novel single\u2010cell\u2010sequencing\u2010based non\u2010invasive prenatal testing (scsbNIPT) method utilizing circulating extravillous trophoblasts (cEVTs) for the detection of fetal p\/lpCNVs, particularly microimbalances &lt;\u20098\u2009Mb.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This was a prospective, blinded, observational multicenter cohort study of 1390 high\u2010risk pregnant women undergoing prenatal invasive diagnostic testing between November 2021 and December 2023. A 20\u2010mL maternal blood sample was collected from each subject between 11\u2009+\u20090 and 22\u2009+\u20096\u2009weeks' gestation\u00a0prior to invasive sampling. cEVTs were isolated and subjected to whole\u2010genome sequencing, using a proprietary workflow. scsbNIPT results were compared with standard invasive prenatal\u00a0diagnostic results obtained by karyotyping and\/or chromosomal microarray analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>scsbNIPT showed a sensitivity of 92.9% (95%\u2009CI, 76.5\u201399.1%) and a specificity of 98.2% (95%\u2009CI, 97.0\u201399.0%) for the detection of genome\u2010wide microimbalances measuring \u2265\u2009300\u2009kb to &lt;\u20098\u2009Mb. The sensitivity for p\/lpCNVs \u2265\u2009300\u2009kb in pregnancies screened at 11\u2009+\u20090 to 14\u2009+\u20096\u2009weeks was 100% (95%\u2009CI, 83.9\u2013100%). For trisomy 21, the sensitivity of scsbNIPT was 98.0% (95%\u2009CI, 92.9\u201399.8%) and the specificity was 99.7% (95%\u2009CI, 99.0\u201399.9%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study demonstrates the scientific validity and clinical utility of scsbNIPT for the non\u2010invasive detection of genome\u2010wide fetal p\/lpCNVs, particularly microimbalances, with high sensitivity and a resolution comparable to that of chromosomal microarray analysis. scsbNIPT may offer more complete screening for genome\u2010wide p\/lpCNVs, markedly lowering the residual risk early in pregnancy compared with existing cfDNA\u2010based methods. \u00a9 2026 Menarini Silicon Biosystems.\n                      <jats:italic>Ultrasound in Obstetrics &amp; Gynecology<\/jats:italic>\n                      published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/uog.70201","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T06:33:04Z","timestamp":1774506784000},"page":"500-509","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Single\u2010cell\u2010based non\u2010invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9080-3848","authenticated-orcid":false,"given":"T.","family":"Stampalija","sequence":"first","affiliation":[{"name":"Unit of Fetal Medicine and Prenatal Diagnosis Institute for Maternal and Child Health IRCCS Burlo Garofolo  Trieste Italy"},{"name":"Department of Medical, Surgical and Health Sciences University of Trieste  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Forcato","sequence":"additional","affiliation":[{"name":"Reproductive Precision Medicine Unit, Menarini Silicon Biosystems  Castel Maggiore (Bologna) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. R.","family":"Grati","sequence":"additional","affiliation":[{"name":"Reproductive Precision Medicine Unit, Menarini Silicon Biosystems  Castel Maggiore (Bologna) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5133-2580","authenticated-orcid":false,"given":"P.","family":"Volpe","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, Di Venere Hospital  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0196-0671","authenticated-orcid":false,"given":"V.","family":"De Robertis","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, Di Venere Hospital  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Izzi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, ASST\u2010Spedali Civili Brescia  Brescia Italy"},{"name":"Department of Molecular and Translational Medicine University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bertucci","sequence":"additional","affiliation":[{"name":"Prenatal Medicine Center, Obstetrics and Gynecology Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults University of Modena and Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Fabietti","sequence":"additional","affiliation":[{"name":"Fetal and Perinatal Medicine and Surgery Unit, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-4297","authenticated-orcid":false,"given":"A.","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Ornaghi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Fondazione IRCCS San Gerardo dei Tintori  Monza Italy"},{"name":"School of Medicine and Surgery University of Milano\u2010Bicocca  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6733-7658","authenticated-orcid":false,"given":"L.","family":"Pasquini","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, Department for Woman and Child Health Careggi University Hospital  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9791-9552","authenticated-orcid":false,"given":"E.","family":"Bevilacqua","sequence":"additional","affiliation":[{"name":"Department of Women and Child Health Women Health Area, Fondazione Policlinico Universitario \u2018A. Gemelli\u2019 IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5102-6062","authenticated-orcid":false,"given":"D.","family":"Paladini","sequence":"additional","affiliation":[{"name":"Fetal Medicine and Surgery, Istituto IRCCS Giannina Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Ghi","sequence":"additional","affiliation":[{"name":"Department of Medicine and Surgery, Obstetrics and Gynecology Unit University of Parma  Parma Italy"},{"name":"Department of Women, Child and Public Health Catholic University of Sacred Heart, Fondazione Policlinico Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Lattuada","sequence":"additional","affiliation":[{"name":"Department of Mother and Child Obstetrics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Dori","sequence":"additional","affiliation":[{"name":"Reproductive Precision Medicine Unit, Menarini Silicon Biosystems  Castel Maggiore (Bologna) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Mercatelli","sequence":"additional","affiliation":[{"name":"Reproductive Precision Medicine Unit, Menarini Silicon Biosystems  Castel Maggiore (Bologna) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6281-9589","authenticated-orcid":false,"given":"A.","family":"Dal Molin","sequence":"additional","affiliation":[{"name":"Reproductive Precision Medicine Unit, Menarini Silicon Biosystems  Castel Maggiore (Bologna) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Buson","sequence":"additional","affiliation":[{"name":"Reproductive Precision Medicine Unit, Menarini Silicon Biosystems  Castel Maggiore (Bologna) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Bolognesi","sequence":"additional","affiliation":[{"name":"Reproductive Precision Medicine Unit, Menarini Silicon Biosystems  Castel Maggiore (Bologna) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Doffini","sequence":"additional","affiliation":[{"name":"Reproductive Precision Medicine Unit, Menarini Silicon Biosystems  Castel Maggiore (Bologna) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. 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