{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T01:02:12Z","timestamp":1788570132328,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,14]],"date-time":"2020-11-14T00:00:00Z","timestamp":1605312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012774","name":"Innovationsfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012774","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":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We aimed to develop cell\u2010based NIPT for cystic fibrosis (CF) and test a pregnancy at risk of two common pathogenic variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>A pregnant woman carrying monozygotic twins opted for prenatal testing as she and her partner were heterozygote carriers of F508del (c.1521:1523del). The partner was also positive for the <jats:italic>CFTR<\/jats:italic>\u2010related variant R117H (c.350G&gt;A). Fetal trophoblasts from maternal blood were enriched and isolated using antibodies and a capillary\u2010based cell\u2010picking instrument. Multiplex PCR\u2010based fragment length analysis was performed on the extracted fetal DNA for STR\u2010genotyping, fetal gender and F508del variant status. The R117H variant status was tested using SNaPshot analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The fetal origin of the isolated cells was verified by detection of two paternally inherited STR alleles and an Y chromosome marker, while no maternal DNA contamination was detected. The direct variant analysis detected F508del heterozygosity and the SNaPshot analysis for R117H detected only the normal allele. Thus, the results showed that the fetuses were healthy carriers of F508del, concordant with the findings of conventional prenatal testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Cell\u2010based NIPT could accurately state the fetal variant status and distinguish fetal trophoblasts from maternal cells. In the future, cell\u2010based NIPT may provide an accurate less invasive alternative to chorionic villous sampling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5861","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T05:16:52Z","timestamp":1604553412000},"page":"234-240","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Cell\u2010based non\u2010invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5058-787X","authenticated-orcid":false,"given":"Line Dahl","family":"Jeppesen","sequence":"first","affiliation":[{"name":"ARCEDI Biotech Aps  Vejle Denmark"},{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Fetal Diagnostics, Department of Clinical Medicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0141-9172","authenticated-orcid":false,"given":"Lotte","family":"Hatt","sequence":"additional","affiliation":[{"name":"ARCEDI Biotech Aps  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 Biotech Aps  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5428-8781","authenticated-orcid":false,"given":"Katarina","family":"Ravn","sequence":"additional","affiliation":[{"name":"ARCEDI Biotech Aps  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7177-7234","authenticated-orcid":false,"given":"Mathias","family":"K\u00f8lvraa","sequence":"additional","affiliation":[{"name":"ARCEDI Biotech Aps  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8504-0893","authenticated-orcid":false,"given":"Palle","family":"Schelde","sequence":"additional","affiliation":[{"name":"ARCEDI Biotech Aps  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6449-6426","authenticated-orcid":false,"given":"Niels","family":"Uldbjerg","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1125-0393","authenticated-orcid":false,"given":"Ida","family":"Vogel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Fetal Diagnostics, Department of Clinical Medicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0223-1673","authenticated-orcid":false,"given":"Dorte L.","family":"Lildballe","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Lillebaelt Hospital University Hospital of Southern Denmark  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.24564"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10041"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2019.305011"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4625"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4948"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.2217\/bmm-2017-0055"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4924"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5150"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000356073"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-66923-9"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5796"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2012.08.002"},{"key":"e_1_2_10_14_1","article-title":"REPLI\u2010g Single Cell Handbook for whole genome amplification from single cells, limited samples, or purified genomic DNA","author":"QIAGEN","year":"2012","journal-title":"REPLI\u2010g\u00ae Single Cell Handbook"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-71562-1"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13880"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02428297"},{"key":"e_1_2_10_18_1","unstructured":"Cystisk Fibrose Foreningen. Screening for cystisk fibrose [Internet].https:\/\/cystiskfibrose.dk\/kampagner\u2010og\u2010maerkesager\/screening\u2010i\u2010graviditet\/. Accessed November 11 2020."}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5861","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.5861","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5861","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T03:44:15Z","timestamp":1693712655000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.5861"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,14]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/pd.5861"],"URL":"https:\/\/doi.org\/10.1002\/pd.5861","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,14]]},"assertion":[{"value":"2020-07-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}