{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:31:39Z","timestamp":1792150299542,"version":"4.4.0"},"reference-count":52,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T00:00:00Z","timestamp":1714435200000},"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":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The balance between benefits and risks of discordant outcomes makes the Genome\u2010Wide Non\u2010Invasive Prenatal Test (GW\u2010NIPT) controversial. This study aims to evaluate performance and clinical utility in a wide cohort of unselected clinical cases from a single center when a standardized protocol is applied and integrated with a secondary algorithm for data interpretation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>In 2\u00a0years, over 70,000 pregnant patients underwent GW\u2010NIPT for fetal common trisomies, sex chromosome aneuploidies, rare autosomal aneuploidies, segmental abnormalities (CNVs\u00a0\u2265\u00a07\u00a0Mb) and microdeletions (CNVs\u00a0&lt;\u00a07\u00a0Mb). All samples were uniformly processed with <jats:italic>Veriseq NIPT Solution v2<\/jats:italic> and analyzed using all data metrics along with a home\u2010made algorithm for sequencing data analysis. Results were retrospectively reviewed for clinical outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 71,883 eligible cases including twin pregnancies, 1011 (1.4%) received a positive result and 781 were confirmed by invasive prenatal diagnosis. Clinical sensitivity ranged from 99.65% for common trisomy (T21, T18, T13) to 83.33% for microdeletions, while specificity remained high (99.98%) for each class of fetal abnormalities detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Integrating a standardized protocol with an internal algorithm allowed discordant results to be reduced, yielding high accuracy. Observed reliability in detecting genome\u2010wide chromosomal conditions reinforced the expanded NIPT utility in clinical practice.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6580","type":"journal-article","created":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T12:29:31Z","timestamp":1714480171000},"page":"936-945","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Test performance and clinical utility of expanded non\u2010invasive prenatal test: Experience on 71,883 unselected routine cases from one single center"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1304-4542","authenticated-orcid":false,"given":"Monica","family":"Faieta","sequence":"first","affiliation":[{"name":"Department of NIPT Eurofins Genoma Group  Rome 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