{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T04:01:54Z","timestamp":1780632114280,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T00:00:00Z","timestamp":1614297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Report a single\u2010center 12\u2010year experience in the fetal diagnosis of diencephalic\u2010mesencephalic junction dysplasia (DMJD) to expand the phenotype with Magnetic resonance imaging (MRI)\u2010based classification, evaluate genetic etiologies, and ascertain outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective medical record and imaging review of all fetal MRI exams with DMJD were performed at our institution.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010three pregnancies with fetal MRI findings of DMJD at 24 (18\u201337) weeks gestational age were studied; 70% were referred for fetal hydrocephalus. Three fetal MRI patterns were recognized. Type A (butterfly\/hypothalamus\u2010midbrain union) was seen in two cases (6%), Type B (partial thalamus\u2010midbrain union) in 22 fetuses (70%), and Type C (complete\/near complete midbrain\u2010thalamic continuity) in nine fetuses (24%). <jats:italic>L1CAM<\/jats:italic> mutations were identified in four cases, and biallelic <jats:italic>VRK1<\/jats:italic> variants in another. Among 14 live\u2010born cases, 11 survived infancy, and 10 underwent postnatal brain MRI which confirmed the fetal MRI diagnosis in all but one case. Development was delayed in all surviving infants, most with additional neurological sequelae.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>DMJD may be identified by prenatal MRI as early as 18\u00a0weeks gestation. We propose three distinct phenotypic forms of DMJD, Types A\u2013C. Next\u2010generation sequencing provides an underlying molecular diagnosis in some patients, but further studies on associated genetic diagnoses and clinical outcomes are indicated.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5909","type":"journal-article","created":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T08:56:49Z","timestamp":1612169809000},"page":"778-790","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Prenatal diagnosis of diencephalic\u2010mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes"],"prefix":"10.1002","volume":"41","author":[{"given":"Anne K.","family":"Lawrence","sequence":"first","affiliation":[{"name":"Prenatal Pediatrics Institute Children's National Hospital  Washington District of Columbia USA"},{"name":"George Washington University School of Medicine and Health Sciences  Washington District of Columbia 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sho","family":"Yano","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranoot","family":"Tanpaiboon","sequence":"additional","affiliation":[{"name":"Rare Disease Institute Division of Genetics and Metabolism Children's National Hospital  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Muenke","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7794-8903","authenticated-orcid":false,"given":"Jamie L.","family":"Fraser","sequence":"additional","affiliation":[{"name":"Prenatal Pediatrics Institute Children's National Hospital  Washington District of Columbia USA"},{"name":"Rare Disease Institute Division of Genetics and Metabolism Children's National Hospital  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adre J.","family":"du Plessis","sequence":"additional","affiliation":[{"name":"Prenatal Pediatrics Institute Children's National Hospital  Washington District of Columbia USA"},{"name":"George Washington University School of Medicine and Health Sciences  Washington District of Columbia 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