{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T03:23:48Z","timestamp":1787282628376,"version":"build-2736575974"},"reference-count":6,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T00:00:00Z","timestamp":1787184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T00:00:00Z","timestamp":1787184000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vox Sanguinis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Objectives<\/jats:title>\n                    <jats:p>\n                      Non\u2010invasive prenatal testing (NIPT) for fetal\n                      <jats:italic>RHD<\/jats:italic>\n                      genotyping is widely used to guide anti\u2010D prophylaxis, but discrepancies between predicted fetal RhD status and postnatal serological typing can occur due to variant\n                      <jats:italic>RHD<\/jats:italic>\n                      alleles. This study aimed to confirm and characterize a suspected novel exon 4 deletion in\n                      <jats:italic>RHD<\/jats:italic>\n                      using multiple molecular methods and to assess inheritance.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>\n                      NIPT predicted an RhD\u2010positive fetus in an RhD\u2010negative pregnant woman, whereas postnatal serology showed an RhD\u2010negative phenotype. Molecular analysis of\n                      <jats:italic>RHD<\/jats:italic>\n                      was performed using the RBC\u2010Ready Gene CDE kit (Inno\u2010Train, Kronberg, Germany), targeted next\u2010generation sequencing (NGS) and Sanger sequencing in the family and in an unrelated RhD\u2010negative woman.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Targeted NGS identified a single\u2010nucleotide deletion in the\n                      <jats:italic>RHD<\/jats:italic>\n                      gene (c.540del), predicted to result in a frameshift and premature termination (p.Leu181CysfsTer48). Sanger sequencing confirmed the variant in the newborn and demonstrated paternal inheritance, with the father heterozygous for the deletion. The same variant was also identified in an unrelated RhD\u2010negative woman of Swedish origin; notably, the newborn's father was also of Swedish origin.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case illustrates a limitation of current NIPT approaches, which detect\n                      <jats:italic>RHD<\/jats:italic>\n                      sequences but not gene functionality. Molecular follow\u2010up is crucial in cases of discordant RhD typing.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/vox.70351","type":"journal-article","created":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T02:46:15Z","timestamp":1787280375000},"source":"Crossref","is-referenced-by-count":0,"title":["Discordant prenatal and postnatal\n                    <scp>RhD<\/scp>\n                    typing caused by a novel\n                    <scp>\n                      <i>RHD<\/i>\n                    <\/scp>\n                    frameshift variant (c.540del; p.\n                    <scp>Leu181CysfsTer48<\/scp>\n                    ) in Swedish individuals"],"prefix":"10.1111","author":[{"given":"Ahlam","family":"Badri","sequence":"first","affiliation":[{"name":"Department of Clinical Immunology and Transfusion Medicine Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Gratschev","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology and Transfusion Medicine Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-9017-3913","authenticated-orcid":false,"given":"Tove","family":"Johansson","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology and Transfusion Medicine Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8810-7974","authenticated-orcid":false,"given":"Agneta","family":"Wikman","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology and Transfusion Medicine Karolinska University Hospital  Stockholm Sweden"},{"name":"Division of Center for Hematology and Regenerative Medicine (HERM), Department of Medicine Karolinska Institutet  Huddinge Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3489-3433","authenticated-orcid":false,"given":"Tesfai","family":"Emahazion","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology and Transfusion Medicine Karolinska University Hospital  Stockholm Sweden"},{"name":"Division of Center for Hematology and Regenerative Medicine (HERM), Department of Medicine Karolinska Institutet  Huddinge Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199812103392402"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2011.03362.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.transci.2010.12.013"},{"key":"e_1_2_10_5_1","first-page":"1","article-title":"Variants of RHD and their clinical relevance","volume":"23","author":"Daniels G","year":"2013","journal-title":"Transfus Med"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/vox.13348"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajogmf.2025.101694"}],"container-title":["Vox Sanguinis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vox.70351","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/vox.70351","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vox.70351","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T02:46:16Z","timestamp":1787280376000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/vox.70351"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,20]]},"references-count":6,"alternative-id":["10.1111\/vox.70351"],"URL":"https:\/\/doi.org\/10.1111\/vox.70351","archive":["Portico"],"relation":{},"ISSN":["0042-9007","1423-0410"],"issn-type":[{"value":"0042-9007","type":"print"},{"value":"1423-0410","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,20]]},"article-number":"vox.70351"}}