{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T23:03:23Z","timestamp":1792623803895,"version":"4.5.0"},"reference-count":41,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,9,11]],"date-time":"2020-09-11T00:00:00Z","timestamp":1599782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To demonstrate the feasibility of cell\u2010free DNA (cfDNA) testing in vanishing twin (VT) pregnancies in routine clinical practice.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Our study included 24\u2009874 singleton and 206 VT consecutive pregnancies. Cell\u2010free DNA was analyzed by massively parallel sequencing. Both aneuploidy analysis (chromosomes 13,18, 21, X, and Y) and fetal fraction estimation were performed according to an Illumina algorithm. Contaminant DNA contribution from the demised co\u2010twin was studied in detail.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>VT pregnancies exhibited a higher prevalence of screen\u2010positive cases (5.8% vs 2.5%), sex discrepancies (10.2% vs 0.05%), and false positive rates (FPR) (2.6% vs 0.3%) than singleton pregnancies. However, their incidence was significantly lower in tests performed after the 14th week (screen\u2010positive cases: 3.1%; sex discrepancies: 7.8%; and FPR: 0.8%). Among the 12 cases in which cfDNA was performed at two time points, fading of contaminating cfDNA was observed in four cases with a sex discrepancy and in one false positive for trisomy 18, resulting in a final correct result.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our data suggest VT pregnancies could be included in cfDNA testing as long as it is applied after the 14th week of pregnancy. However, future studies to validate our findings are needed before including VT cases in routine clinical practice. Once established, unnecessary invasive procedures could be avoided, mitigating negative emotional impact on future mothers.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5817","type":"journal-article","created":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T03:56:55Z","timestamp":1598327815000},"page":"1241-1248","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Should vanishing twin pregnancies be systematically excluded from cell\u2010free fetal DNA testing?"],"prefix":"10.1002","volume":"41","author":[{"given":"Nuria","family":"Balaguer","sequence":"first","affiliation":[{"name":"Igenomix Spain Lab S.L.U.  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Mateu\u2010Brull","sequence":"additional","affiliation":[{"name":"Igenomix Spain Lab S.L.U.  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente","family":"Serra","sequence":"additional","affiliation":[{"name":"Maternal\u2010Foetal Medicine Unit, Valencian University Institute of Infertility (IVIRMA)  Valencia Spain"},{"name":"Department of Obstetrics &amp; Gynecology Faculty of Medicine, University of Valencia  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Sim\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology Faculty of Medicine, University of Valencia  Valencia Spain"},{"name":"Igenomix S.L.  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