{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T21:48:41Z","timestamp":1771364921137,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,4,27]],"date-time":"2015-04-27T00:00:00Z","timestamp":1430092800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministere des Affaires Sociales et de la Sante - DGOS - FRANCE","award":["PHRC SEQ21"],"award-info":[{"award-number":["PHRC SEQ21"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>By\u2010the\u2010book implementation of non\u2010invasive prenatal test and clinical validation for trisomy 21.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design<\/jats:title><jats:p>Publicly funded prospective study of 225 cases. Women at risk for trisomy 21\u2009&gt;\u20091\/250 based on combined ultrasound and serum markers during first or second trimester were eligible following an informed consent. The technique was established from the available literature and performed on 10\u2009mL of venous blood collected prior to chorionic villus sampling or amniocentesis. Investigators were blinded to the fetal karyotype. Results were expressed in Z\u2010scores of the percentage of each chromosome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 976 eligible cases, 225 were processed: 8 were used for pretesting phase and 23 to build a reference set. One hundred thirty six euploid cases and 47 with trisomy 21 were then run randomly. Eleven cases yielded no result (4.8%). Z\u2010scores were above 3 (7.58+\/\u22122.41) for chromosome 21 in all 47 trisomies and in none of the euploid cases (0.11+\/\u22121.0). Z\u2010scores were within normal range for the other chromosomes in both groups. Using a cut\u2010off of 3, sensitivity and specificity were of 100% 95% CI [94.1, 100] and 100% 95% CI [98, 100], respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Non\u2010invasive prenatal test for trisomy 21 is a robust strategy that can be translated from seminal publications. Publicly funded studies should refine its indications and cost\u2010effectiveness in prenatal screening and diagnosis. \u00a9 2015 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4561","type":"journal-article","created":{"date-parts":[[2015,1,21]],"date-time":"2015-01-21T14:18:23Z","timestamp":1421849903000},"page":"471-476","source":"Crossref","is-referenced-by-count":14,"title":["Non\u2010invasive prenatal testing for trisomy 21 based on analysis of cell\u2010free fetal DNA circulating in the maternal plasma"],"prefix":"10.1002","volume":"35","author":[{"given":"A.","family":"Alberti","sequence":"first","affiliation":[{"name":"Genoscope CEA  Evry France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. 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