{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T13:48:58Z","timestamp":1768744138250,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,23]],"date-time":"2024-03-23T00:00:00Z","timestamp":1711152000000},"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":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate cell\u2010free non\u2010invasive prenatal testing (cfNIPT) in pregnancies affected by mosaicism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We assessed paired cfNIPT and chorionic villus sample (CVS) results from the same pregnancies in a case series of mosaicism detected in Central and North Denmark Regions from April 2014 to September 2018. Indications for the clinically obtained CVS, pregnancy markers and outcome were retrieved from The Danish Fetal Medicine Database.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mosaicisms in CVS involved common aneuploidy, <jats:italic>n<\/jats:italic>\u00a0=\u00a014; sex chromosomal aneuploidies, <jats:italic>n<\/jats:italic>\u00a0=\u00a014; rare autosomal trisomies (RATs), <jats:italic>n<\/jats:italic>\u00a0=\u00a016 and copy number variants (CNVs) &gt;5Mb, <jats:italic>n<\/jats:italic>\u00a0=\u00a09. Overall, 24\/53 (45.3%; CI 95%: 31.8%\u201359.4%) of cases with mosaicism were detected by cfNIPT; highest for RATs (56%) and lowest for CNVs (22%). CfNIPT more commonly detected high\u2010level than low\u2010level mosaic cases (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.000). CfNIPT detected 7\/16 (43.8%; CI 95%: 21%\u201369%) clinically significant mosaic cases, either true fetal mosaicism or confined placental mosaicisms with adverse pregnancy outcome. There was a trend toward a higher risk for adverse outcome in pregnancies where mosaicism was detected by cfNIPT compared to pregnancies where mosaicism was not detected by cfNIPT (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.31).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>CfNIPT has a low detection rate of mosaicism, including pregnancies with clinically significant mosaicism. However, abnormal cfNIPT results may be a predictor of adverse pregnancy outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6558","type":"journal-article","created":{"date-parts":[[2024,3,23]],"date-time":"2024-03-23T15:58:55Z","timestamp":1711209535000},"page":"562-571","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Use of cell\u2010free non\u2010invasive prenatal testing in pregnancies affected by placental mosaicism"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5480-220X","authenticated-orcid":false,"given":"Ida Charlotte Bay","family":"Lund","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"},{"name":"Department of Biomedicine Aarhus University  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naja","family":"Becher","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"},{"name":"Department of Biomedicine Aarhus University  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorte","family":"Lildballe","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Molecular Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lotte","family":"Andreasen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus 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