{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T04:37:59Z","timestamp":1791520679203,"version":"4.3.4"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex. Dedicated neurosonographic, fetal magnetic resonance imaging (MRI) and postnatal reports were reviewed. Data collected included reason for referral, gestational age at which cardiac rhabdomyoma was first suspected and final number of cardiac rhabdomyomas detected on dedicated imaging. We searched for tuberous sclerosis complex\u2010related brain involvement, defined as the presence of one or more of the following findings: white\u2010matter lesions; subependymal nodules; cortical\/subcortical tubers; and subependymal giant\u2010cell astrocytoma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We included 20 patients at high risk of tuberous sclerosis complex, of whom 19 were referred for the presence of cardiac rhabdomyomas and one for a deletion in chromosome 16 involving the tuberous sclerosis complex gene locus. Cardiac rhabdomyomas were diagnosed at a mean gestational age of 27\u2009+\u20092\u2009weeks (range, 16\u2009+\u20090 to 36\u2009+\u20093\u2009weeks) and the mean number of cardiac rhabdomyomas per patient was 4 (range, 1\u201310). Brain involvement was present in 15 fetuses, in 13 of which the disease was confirmed in one or more of the following ways: chromosomal microarray analysis (<jats:italic>n<\/jats:italic>\u2009=\u20091), exome sequencing (<jats:italic>n<\/jats:italic>\u2009=\u20097), autopsy (<jats:italic>n<\/jats:italic>\u2009=\u20094), clinical tuberous sclerosis complex in the newborn (<jats:italic>n<\/jats:italic>\u2009=\u20094) and a sibling diagnosed with clinical tuberous sclerosis complex (<jats:italic>n<\/jats:italic>\u2009=\u20091). In two cases, the disease could not be confirmed: one was lost to follow\u2010up and autopsy, following termination of pregnancy, was not performed in the other. Among the five cases without brain findings, tuberous sclerosis complex was confirmed in three by exome sequencing (<jats:italic>n<\/jats:italic>\u2009=\u20092) and\/or autopsy findings (<jats:italic>n<\/jats:italic>\u2009=\u20092). The two remaining cases had normal exome sequencing; one case had five cardiac rhabdomyomas, which was a highly suggestive finding, while in the final case, the autopsy was considered normal, representing the only false\u2010positive case in our cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Contrary to current literature, dedicated neurosonography appears to be effective in the diagnosis of brain involvement in fetuses at risk of tuberous sclerosis complex and should be used as the first\u2010line approach. Although the number of cases in which MRI was performed was small, it seems that, in the presence of ultrasound findings, the added value of MRI is low. \u00a9 2023 The Authors. Ultrasound in Obstetrics &amp; Gynecology published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.26213","type":"journal-article","created":{"date-parts":[[2023,4,6]],"date-time":"2023-04-06T11:16:12Z","timestamp":1680779772000},"page":"391-397","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Fetal neurosonography as accurate tool for diagnosis of brain involvement in tuberous sclerosis"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0864-206X","authenticated-orcid":false,"given":"G.","family":"Malinger","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit, Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Prabhu","sequence":"additional","affiliation":[{"name":"Apollo Center for Fetal Medicine Indraprashta Apollo Hospitals  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Maroto Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Hospital Universitari de Girona Dr Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Brusilov","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit, Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kidron","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Department of Pathology Sapir Medical Center  Kfar Saba Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Amster","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit, Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1073-6348","authenticated-orcid":false,"given":"R.","family":"Birnbaum","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit, Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Krajden Haratz","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit, Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2016.35"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2021.07.011"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1182"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/1971400915621323"},{"key":"e_1_2_7_6_1","first-page":"257","article-title":"Maternal and fetal tuberous sclerosis: do we know enough as an obstetrician?","volume":"18","author":"Sharma N","year":"2017","journal-title":"J Reprod Infertil"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2021.02.060"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01403693"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.175.4.1751067"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.464"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13933"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141208"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A7455"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2261-14-66"},{"key":"e_1_2_7_15_1","first-page":"633","article-title":"Antenatal ultrasonographic findings in tuberous sclerosis. 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