{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T18:03:59Z","timestamp":1789322639588,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"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":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic\n                      <jats:italic>RNU4ATAC<\/jats:italic>\n                      variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This retrospective case series includes five prenatal cases with MOPD1. Diagnoses were established by prenatal ultrasound and genetic testing. Genome sequencing (GS) or targeted exome sequencing (ES) detected the variants either prenatally or after termination of pregnancy (TOP). Clinical data including parental demographics, ultrasound findings, and pregnancy outcomes were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All fetuses presented with consistent anomalies on ultrasound including intrauterine growth restriction (IUGR), microcephaly, agenesis of the corpus callosum (ACC), intracranial cysts, lissencephaly, and micrognathia. IUGR was the earliest anomaly detected in all five cases. Prenatal ultrasound findings suggestive of skeletal dysplasia were identified in one case. All cases carried biallelic pathogenic\n                      <jats:italic>RNU4ATAC<\/jats:italic>\n                      variants associated with MOPD1. TOP was chosen in four cases. One fetus was delivered at 39\u00a0+\u00a01\u00a0weeks with genetic diagnosis confirmed at 27\u00a0weeks.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      IUGR, microcephaly and ACC can be detected in fetuses with MOPD1 at around 18\u00a0weeks of gestation. Interestingly, skeletal dysplasia was not a consistent prenatal finding. Variants in the non\u2010coding\n                      <jats:italic>RNU4ATAC<\/jats:italic>\n                      gene need to be detected by GS or targeted approaches beyond standard ES.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70240","type":"journal-article","created":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T11:00:40Z","timestamp":1786705240000},"page":"1648-1654","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Phenotypic Features of Five Fetal Cases With\n                    <i>RNU4ATAC<\/i>\n                    \u2010Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4964-0389","authenticated-orcid":false,"given":"Alexandra","family":"Liebmann","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University Hospital T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Center for Rare Disease University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7441-2140","authenticated-orcid":false,"given":"Tanja","family":"Richter","sequence":"additional","affiliation":[{"name":"MVZ Genetikum GmbH Center for Human Genetics  Neu\u2010Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0819-9803","authenticated-orcid":false,"given":"Nevena","family":"Krsti\u0107","sequence":"additional","affiliation":[{"name":"Morsani College of Medicine University of South Florida  Tampa Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Hoopmann","sequence":"additional","affiliation":[{"name":"Department of Women's Health University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1497-5143","authenticated-orcid":false,"given":"Karl Oliver","family":"Kagan","sequence":"additional","affiliation":[{"name":"Department of Women's Health University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9086-8118","authenticated-orcid":false,"given":"Lena\u2010Sophie","family":"Menig\u2010Benzig","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University Hospital T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6879-5909","authenticated-orcid":false,"given":"Simone","family":"Olivieri","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University Hospital T\u00fcbingen  T\u00fcbingen 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,14]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9718"},{"key":"e_1_2_11_3_1","volume-title":"GeneReviews((R))","author":"Duker 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