{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:59:34Z","timestamp":1753891174601,"version":"3.41.2"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T00:00:00Z","timestamp":1646956800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012774","name":"Innovationsfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012774","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefore, there is a need for noninvasive testing options that can test twin pregnancies at an early gestational age and ideally test the twins individually.<\/jats:p><jats:p><jats:bold>Case presentation:<\/jats:bold> A pregnant woman opted for cell-based NIPT at GA 10 + 5. As cell-based NIPT is not established for use in twins, the test was provided in a research setting only, when an ultrasound scan showed that she carried dichorionic twins.<\/jats:p><jats:p><jats:bold>Materials and Methods:<\/jats:bold> Fifty mL of peripheral blood was sampled, and circulating fetal cells were enriched and isolated. Individual cells were subject to whole-genome amplification and STR analysis. Three fetal cells were analyzed by chromosomal microarray (aCGH).<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> We identified 20 fetal cells all sharing the same genetic profile, which increased the likelihood of monozygotic twins. aCGH of three fetal cells showed the presence of two X chromosomes and a gain of chromosome Y. CVS from both placentae confirmed the sex chromosomal anomaly, 47,XXY and that both fetuses were affected.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> NIPT options can provide valuable genetic information to twin pregnancies that help the couples in their decision-making on prenatal testing. Little has been published about the use of cell-based NIPT in twin pregnancies, but the method may offer the possibility to obtain individual cell-based NIPT results in dizygotic twins.<\/jats:p>","DOI":"10.3389\/fgene.2022.842092","type":"journal-article","created":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T16:59:31Z","timestamp":1647017971000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy"],"prefix":"10.3389","volume":"13","author":[{"given":"Line Dahl","family":"Jeppesen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina Duelund","family":"Hjortsh\u00f8j","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johnny","family":"Hindkj\u00e6r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lotte","family":"Hatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olav Bj\u00f8rn","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ripudaman","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Palle","family":"Schelde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lotte","family":"Andreasen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikke","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorte L.","family":"Lildballe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ida","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,3,11]]},"reference":[{"key":"B1","doi-asserted-by":"crossref","DOI":"10.1002\/pd.4924","article-title":"Evidence for Feasibility of Fetal Trophoblastic Cell-Based Noninvasive Prenatal Testing","author":"Breman","year":"2016","journal-title":"Prenat Diagn."},{"key":"B2","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1016\/j.ajog.2010.04.031","article-title":"Twins: Prevalence, Problems, and Preterm Births","volume":"203","author":"Chauhan","year":"2010","journal-title":"Am. J. Obstet. Gynecol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1438","DOI":"10.1038\/ejhg.2015.57","article-title":"Non-invasive Prenatal Testing for Aneuploidy and beyond: Challenges of Responsible Innovation in Prenatal Screening","volume":"23","author":"Dondorp","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1080\/19336918.2016.1170258","article-title":"Epithelial-mesenchymal Transition during Extravillous Trophoblast Differentiation","volume":"10","author":"E. Davies","year":"2016","journal-title":"Cell Adhes. Migration"},{"key":"B5","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1002\/uog.15964","article-title":"Aneuploidy Screening by Non-invasive Prenatal Testing in Twin Pregnancy","volume":"49","author":"Fosler","year":"2017","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1002\/uog.20284","article-title":"Screening for Trisomies by cfDNA Testing of Maternal Blood in Twin Pregnancy: Update of the Fetal Medicine Foundation Results and Meta-Analysis","volume":"53","author":"Gil","year":"2019","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B7","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejogrb.2018.04.042","article-title":"Non-Invasive Prenatal Testing (NIPT) in Pregnancies with Trisomy 21, 18 and 13 Performed in a Public Setting \u2013 Factors of Importance for Correct Interpretation of Results","author":"Hartwig","year":"2018","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"B8","doi-asserted-by":"crossref","DOI":"10.1159\/000356073","article-title":"Characterization of Fetal Cells from the Maternal Circulation by Microarray Gene Expression Analysis - Could the Extravillous Trophoblasts Be a Target for Future Cell-Based Non-invasive Prenatal Diagnosis?","author":"Hatt","year":"2014","journal-title":"Fetal Diagn. Ther."},{"key":"B9","doi-asserted-by":"publisher","first-page":"2561","DOI":"10.1002\/ccr3.3211","article-title":"Cell\u2010based Noninvasive Prenatal Testing (cbNIPT) Detects Pathogenic Copy Number Variations","volume":"8","author":"Hatt","year":"2020","journal-title":"Clin. Case Rep."},{"key":"B10","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1002\/pd.5609","article-title":"Cell\u2010free DNA Fetal Fraction in Twin Gestations in Single\u2010nucleotide Polymorphism\u2010based Noninvasive Prenatal Screening","volume":"40","author":"Hedriana","year":"2020","journal-title":"Prenatal Diagn."},{"key":"B11","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1017\/s0001566000000441","article-title":"Trends of Twinning Rates in Ten Countries, 1972-1996","volume":"46","author":"Imaizumi","year":"1997","journal-title":"Acta Genet. Med. gemellol.: Twin Res."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1643","DOI":"10.3389\/fgene.2021.741752","article-title":"Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman with Mosaicism for Turner Syndrome\u2014Applications and Advantages of Cell-Based NIPT","volume":"12","author":"Jeppesen","year":"2021","journal-title":"Front. Genet."},{"key":"B13","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.metabol.2017.09.017","article-title":"Klinefelter Syndrome: More Than Hypogonadism","volume":"86","author":"Kanakis","year":"20182018","journal-title":"Metabolism"},{"key":"B14","doi-asserted-by":"crossref","DOI":"10.1002\/pd.4948","article-title":"Genome-wide Copy Number Analysis on DNA from Fetal Cells Isolated from the Blood of Pregnant Women","author":"K\u00f8lvraa","year":"2016","journal-title":"Prenat Diagn."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1484","DOI":"10.1373\/clinchem.2019.306548","article-title":"Noninvasive Prenatal Testing and Detection of Occult Maternal Malignancies","volume":"65","author":"Lenaerts","year":"2019","journal-title":"Clin. Chem."},{"key":"B16","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1002\/pd.5814","article-title":"Confirmation Rate of Cell Free DNA Screening for Sex Chromosomal Abnormalities According to the Method of Confirmatory Testing","volume":"41","author":"L\u00fcthgens","year":"2021","journal-title":"Prenat Diagn."},{"key":"B17","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13039-020-0475-8","article-title":"Non-invasive Prenatal Test to Screen Common Trisomies in Twin Pregnancies","volume":"13","author":"Motevasselian","year":"2020","journal-title":"Mol. Cytogenet."},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1002\/uog.18156","article-title":"P16.02: Detecting Aneuploidies and Subchromosomal Abnormalities by Use of Circulating Fetal Trophoblast Cells in Maternal Blood","author":"Petersen","year":"2017","journal-title":"Ultrasound Obstet. Gynecol"},{"key":"B19","doi-asserted-by":"publisher","first-page":"2170","DOI":"10.1007\/s43032-020-00243-1","article-title":"The Number of Circulating Fetal Extravillous Trophoblasts Varies from Gestational Week 6 to 20","volume":"27","author":"Ravn","year":"2020","journal-title":"Reprod. Sci."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1002\/pd.5890","article-title":"Increased RISK for 47,XXY on Cell\u2010free DNA Screen: Not Always Klinefelter Syndrome","volume":"41","author":"Ronzoni","year":"2021","journal-title":"Prenatal Diagn."},{"key":"B21","doi-asserted-by":"publisher","first-page":"e48","DOI":"10.1097\/AOG.0000000000004084","article-title":"Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226","volume":"136","author":"Rose","year":"2020","journal-title":"Obstet. Gynecol."},{"key":"B22","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1002\/pd.5044","article-title":"The Benefits and Limitations of Cell-free DNA Screening for 47, XXY (Klinefelter Syndrome)","volume":"37","author":"Samango-Sprouse","year":"2017","journal-title":"Prenat Diagn."},{"article-title":"Retningslinjer for Fosterdiagnostik - PR\u00c6NATAL INFORMATION","year":"2017","author":"Sundhedsstyrelsen","key":"B23"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5150","article-title":"On the Road to Replacing Invasive Testing with Cell-Based NIPT: Five Clinical Cases with Aneuploidies, Microduplication, Unbalanced Structural Rearrangement, or Mosaicism","author":"Vestergaard","year":"2017","journal-title":"Prenat Diagn."},{"key":"B25","doi-asserted-by":"crossref","DOI":"10.1002\/pd.5377","article-title":"Reliable Detection of Subchromosomal Deletions and Duplications Using Cell-Based Noninvasive Prenatal Testing","author":"Vossaert","year":"2018","journal-title":"Prenat Diagn"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1262","DOI":"10.1016\/j.ajhg.2019.11.004","article-title":"Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis","volume":"105","author":"Vossaert","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"B27","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.cca.2015.02.014","article-title":"Maternal X Chromosome Copy Number Variations Are Associated with Discordant Fetal Sex Chromosome Aneuploidies Detected by Noninvasive Prenatal Testing","volume":"444","author":"Wang","year":"2015","journal-title":"Clinica Chim. Acta"},{"key":"B28","doi-asserted-by":"crossref","DOI":"10.1186\/s13039-020-0478-5","volume-title":"Cell-free DNA Screening for Sex Chromosome Aneuploidies by Non-invasive Prenatal Testing in Maternal Plasma","author":"Wang","year":""},{"key":"B29","doi-asserted-by":"publisher","first-page":"2683","DOI":"10.1093\/humrep\/dep343","article-title":"The International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) Revised Glossary on ART Terminology, 2009","volume":"24","author":"Zegers-Hochschild","year":"2009","journal-title":"Hum. Reprod."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.842092\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T16:59:43Z","timestamp":1647017983000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.842092\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,11]]},"references-count":29,"alternative-id":["10.3389\/fgene.2022.842092"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2022.842092","relation":{},"ISSN":["1664-8021"],"issn-type":[{"type":"electronic","value":"1664-8021"}],"subject":[],"published":{"date-parts":[[2022,3,11]]},"article-number":"842092"}}