{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:45:27Z","timestamp":1791002727982,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T00:00:00Z","timestamp":1670457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012774","name":"Innovationsfonden","doi-asserted-by":"publisher","award":["0153\u201000004B"],"award-info":[{"award-number":["0153\u201000004B"]}],"id":[{"id":"10.13039\/100012774","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","award":["NNF16OC0018772"],"award-info":[{"award-number":["NNF16OC0018772"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell\u2010based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS\u2010based CF analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In all 27 cases, cell\u2010based NIPT provided a result using both methods in agreement with the invasive test result.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study shows that cell\u2010based NIPT for CF screening provides a reliable result without the need for partner\u2010 and proband samples.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6276","type":"journal-article","created":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T06:20:35Z","timestamp":1669789235000},"page":"3-13","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease\u2010causing variants"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5058-787X","authenticated-orcid":false,"given":"Line Dahl","family":"Jeppesen","sequence":"first","affiliation":[{"name":"ARCEDI  Vejle Denmark"},{"name":"Center for Fetal Diagnostics, Department of Clinical Medicine Faculty of Health Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorte Launholt","family":"Lildballe","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnostics, Department of Clinical Medicine Faculty of Health Aarhus University  Aarhus Denmark"},{"name":"Department of Molecular Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotte","family":"Hatt","sequence":"additional","affiliation":[{"name":"ARCEDI  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Hedegaard","sequence":"additional","affiliation":[{"name":"ARCEDI  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2657-0661","authenticated-orcid":false,"given":"Ripudaman","family":"Singh","sequence":"additional","affiliation":[{"name":"ARCEDI  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5012-3143","authenticated-orcid":false,"given":"Christian Liebst Frisk","family":"Toft","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics Aalborg University Hospital  Aalborg Denmark"},{"name":"Center for Preimplantation Genetic Testing Aalborg University Hospital  Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Palle","family":"Schelde","sequence":"additional","affiliation":[{"name":"ARCEDI  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders Sune","family":"Pedersen","sequence":"additional","affiliation":[{"name":"ARCEDI  Vejle Denmark"},{"name":"Department of Molecular Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Knudsen","sequence":"additional","affiliation":[{"name":"ARCEDI  Vejle Denmark"},{"name":"Department of Molecular Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida","family":"Vogel","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnostics, Department of Clinical Medicine Faculty of Health Aarhus University  Aarhus Denmark"},{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,8]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTRGene Discovery","author":"Scotet V","year":"2020"},{"key":"e_1_2_9_3_1","unstructured":"Hospital of Sick Children.Cystic Fibrosis Mutation Database [Internet]. 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