{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T06:13:53Z","timestamp":1776406433826,"version":"3.51.2"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T00:00:00Z","timestamp":1717545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES).<\/jats:p><\/jats:sec><jats:sec><jats:title>Study design<\/jats:title><jats:p>Thirty\u2010four pregnancies complicated by RES were identified from our institutional databases based on US and\/or MRI findings. Genetic testing results were gathered. In cases of termination of pregnancy, we studied the association between prenatal imaging and neuropathologic findings. For those who opted for expectant management, comprehensive developmental assessments and postnatal MRI imaging were evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Over one third of fetuses in our cohort had complete RES. Common intracranial anomalies identified were mesencephalosynapsis, aqueduct stenosis and diencephalosynapsis. The degree of RES was not associated with the frequency of additional central nervous system anomalies. MRI had a good correlation with neuropathologic findings with regard to the degree of RES, aqueduct stenosis and mesencephalosynapsis. Postmortem autopsy showed that one third of our cases had VACTERL\u2010H and almost all of those had complete RES. All liveborn neonates(<jats:italic>n<\/jats:italic>\u00a0=\u00a06) had aqueduct stenosis requiring ventriculoperitoneal shunting within days of delivery (median 5\u00a0days). While a large proportion of prenatally suspected complete RES were found to have partial RES on postnatal imaging, prenatal diagnosis of aqueduct stenosis remained unchanged. All children that were at least 2\u00a0years old (<jats:italic>n<\/jats:italic>\u00a0=\u00a03) had global developmental delay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Prenatal assessment of the RES severity is challenging and may be unreliable. Nevertheless, postnatal prognosis is poor for both complete and partial RES. Associated aqueductal stenosis, can be reliably assessed prenatally and this may contribute to worse postnatal prognosis than the degree of RES.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6620","type":"journal-article","created":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T04:10:11Z","timestamp":1717647011000},"page":"1159-1169","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Associations and outcomes of prenatally detected rhombencephalosynapsis"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7388-1414","authenticated-orcid":false,"given":"Yada","family":"Kunpalin","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology Fetal Medicine Unit Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elka","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging and Interventional Radiology The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamini","family":"Raghuram","sequence":"additional","affiliation":[{"name":"Division of Neonatology Department of Paediatrics Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yael","family":"Fisher","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vann","family":"Chau","sequence":"additional","affiliation":[{"name":"Division of Neurology The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ants","family":"Toi","sequence":"additional","affiliation":[{"name":"Departemnt of Medical Imaging Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"},{"name":"Department of Obstsetrics and Gyneology The Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"},{"name":"Department of Pediatrics Division of Clinical and Metabolic Genetics The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Blaser","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging and Interventional Radiology The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiri","family":"Shinar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Fetal Medicine Unit Mount Sinai Hospital University of Toronto  Toronto Ontario 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