{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:14:39Z","timestamp":1759968879423,"version":"build-2065373602"},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T00:00:00Z","timestamp":1746403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD105868"],"award-info":[{"award-number":["R01HD105868"]}],"id":[{"id":"10.13039\/100000071","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":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To report a novel prenatal presentation of Loeys\u2010Dietz Syndrome type 1 (LDS1), characterized by severe ventriculomegaly and macrocephaly, associated with a likely pathogenic variant in the <jats:italic>TGFBR1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 31\u2010year\u2010old G4P2012 was referred for fetal ventriculomegaly identified during routine first\u2010trimester ultrasound. Comprehensive fetal evaluation included serial imaging, fetal echocardiography, and whole genome sequencing. Genetic counseling and multidisciplinary care were provided throughout the pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Imaging confirmed progressive, severe ventriculomegaly without evidence of neural tube defect or cardiac abnormality. Whole genome sequencing revealed a novel de novo heterozygous c.689C&gt;A, p.(Ala230Asp) variant in <jats:italic>TGFBR1<\/jats:italic>, classified as likely pathogenic. The patient underwent cesarean delivery at 37w1d due to significant macrocephaly. Postnatal findings included Dandy\u2010Walker malformation requiring ventriculoperitoneal shunt, unilateral retinal detachment, and focal seizures. Postnatal echocardiogram was normal. Dysmorphic features and clinical findings were consistent with LDS1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case expands the prenatal phenotype associated with Loeys\u2010Dietz Syndrome type 1, demonstrating that severe ventriculomegaly and macrocephaly may be early markers of disease. Early identification of LDS1 through advanced prenatal imaging and genetic testing may support anticipatory guidance and multidisciplinary care planning.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6811","type":"journal-article","created":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T00:34:21Z","timestamp":1746491661000},"page":"835-839","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Detection of <i>TGFBR1<\/i> Variant Associated With Severe Ventriculomegaly and Loeys\u2013Dietz Syndrome"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0499-1427","authenticated-orcid":false,"given":"Mia B.","family":"Hodges","sequence":"first","affiliation":[{"name":"University of North Carolina School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6885-4609","authenticated-orcid":false,"given":"Sally","family":"Harris","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology Wake Forest University School of Medicine  Winston\u2010Salem North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brianna","family":"Murphy","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology Wake Forest University School of Medicine  Winston\u2010Salem North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly L.","family":"Gilmore","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology University of North Carolina School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2504-9455","authenticated-orcid":false,"given":"Neeta L.","family":"Vora","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology University of North Carolina School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,5]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u20100750\u20104"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.avsg.2020.04.038"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100444\u2010y"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa055695"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.a1651"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951111001028"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6811","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:17:32Z","timestamp":1759882652000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,5]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/pd.6811"],"URL":"https:\/\/doi.org\/10.1002\/pd.6811","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2025,5,5]]},"assertion":[{"value":"2024-11-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}