{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:14:22Z","timestamp":1775805262913,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T00:00:00Z","timestamp":1768608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T00:00:00Z","timestamp":1768608000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This report describes two unrelated prenatal cases of Shwachman\u2010Diamond syndrome (SDS) presenting primarily with severe skeletal anomalies. SDS is a rare autosomal recessive disorder characterized by a triad of bone marrow dysfunction, skeletal abnormalities, and exocrine pancreatic dysfunction. The most common postnatal features include faltering growth, short stature, and neutropenia resulting in recurrent infections. Prenatal presentations could be scarce as the most common features are typically not apparent before birth. Molecular diagnosis of SDS relies on the identification of biallelic loss\u2010of\u2010function pathogenic variants in the\n                    <jats:italic>SBDS<\/jats:italic>\n                    gene. However, molecular genetic analysis is hampered by the presence of a pseudogene (\n                    <jats:italic>SBDSP1<\/jats:italic>\n                    ), which can lead to misalignment or gene conversion events. In both reported cases, initial genetic testing was inconclusive. Subsequently, through clinical phenotype reassessment and expanded molecular analysis, the diagnosis of SDS by germline pathogenic\n                    <jats:italic>SBDS<\/jats:italic>\n                    variants (c.258+2T&gt;C p.(?) and c.184A&gt;T p.Lys62Ter) was established. These cases underscore the diagnostic complexity of SDS in prenatal settings and the necessity of comprehensive molecular analysis when facing severe skeletal anomalies suggesting small thoracic skeletal dysplasia and are further supported by an added literature review that expands the prenatal phenotype.\n                  <\/jats:p>","DOI":"10.1002\/pd.70073","type":"journal-article","created":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T14:44:15Z","timestamp":1768661055000},"page":"270-276","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Shwachman\u2010Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1317-4312","authenticated-orcid":false,"given":"Nathalie","family":"Vanden Eynde","sequence":"first","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"},{"name":"Laboratoire National de Sant\u00e9 (LNS) National Center of Genetics (NCG)  Dudelange Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5907-829X","authenticated-orcid":false,"given":"Ileen","family":"Slegers","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Vantroys","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Medicine Center for Medical Genetics Ghent University Hospital Ghent University  Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Don\u00e9","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Gynaecology  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anniek","family":"Vorsselmans","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Gynaecology  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Leus","sequence":"additional","affiliation":[{"name":"Center for Children's Radiology Universitair Ziekenhuis Brussel  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Brock","sequence":"additional","affiliation":[{"name":"Center for Pathology Universitair Ziekenhuis Brussel  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathelijn","family":"Keymolen","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3025-0882","authenticated-orcid":false,"given":"Frederik Jan","family":"Hes","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boyan","family":"Dimitrov","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"van Berkel","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel (VUB) Universitair Ziekenhuis Brussel (UZ Brussel) Clinical Sciences Research Group Genetics Reproduction and Development Centre for Medical Genetics  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,17]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2018.04.006"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2017.09.002"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010004\u20101081\u20102"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102431\u201012\u201048"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100036\u20101584307"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6762"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266241272735"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e318282994e"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102004\u201004\u20101516"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/children11060705"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12941"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010012\u20101908\u20100"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40291\u2010018\u20100368\u20102"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61598"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2006.01.010"}],"container-title":["Prenatal 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