{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T08:34:36Z","timestamp":1763454876831,"version":"3.45.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T00:00:00Z","timestamp":1704931200000},"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":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Microcephaly with simplified gyral pattern (MSG) is an intrinsic genetic central nervous system disorder, characterized by microcephaly (a reduction of brain volume) and a simplified gyral pattern (a reduced number of gyri and shallow sulci associated with normal cortical thickness and neuroanatomical architecture), related to a reduced number of neuronal progenitors in the germinal matrix. We report the first prenatal series of MSG and define the prenatal imaging pattern, which should inform diagnosis and guide prenatal counseling in cases of fetal microcephaly. In this single\u2010center retrospective study of fetuses with MSG, we assessed features on ultrasound and magnetic resonance imaging (MRI), as well as genetic and neuropathological\/postnatal data. We included eight patients who had been referred following observation of microcephaly. Ultrasound examination confirmed microcephaly, with a mean growth delay in head circumference of 3.4\u2009weeks, associated with both a lack of gyration and a lack of opercularization of the Sylvian fissure and without any extracephalic anomaly. Fetal brain MRI confirmed lack of gyration with normal cortical thickness and normal intensity of the white matter in all cases. These MRI features led to exclusion of migration\/corticogenesis disorders (lissencephaly\/polymicrogyria), instead suggesting MSG. The posterior fossa was normal in seven of the eight cases. The corpus callosum was thin in four cases, hypoplastic in two and dysgenetic in two. In four cases, the pregnancy was terminated. The diagnosis of MSG was confirmed from neuropathological and postnatal MRI data. MSG was associated with a genetic diagnosis of\n                    <jats:italic>RTTN<\/jats:italic>\n                    (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20091) and\n                    <jats:italic>ASPM<\/jats:italic>\n                    (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20092) biallelic variants in three of the six cases in which genetic work\u2010up was performed. Mild or moderate intellectual deficit with speech delay was present in the three surviving children who were at least 5\u2009years of age at their last examination, without seizures. In conclusion, in the presence of isolated fetal microcephaly with lack of gyration on ultrasound, fetal cerebral MRI is key to diagnosing MSG, which, in the majority of cases, affects the supratentorial space exclusively, and to ruling out other cortical malformations that show a similar sonographic pattern. In addition to imaging, genetic assessment may guide prenatal counseling, since the prenatal prognosis of MSG is different from that of both diffuse polymicrogyria and lissencephaly. \u00a9 2023 The Authors.\n                    <jats:italic>Ultrasound in Obstetrics &amp; Gynecology<\/jats:italic>\n                    published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.\n                  <\/jats:p>","DOI":"10.1002\/uog.27450","type":"journal-article","created":{"date-parts":[[2023,8,8]],"date-time":"2023-08-08T01:35:40Z","timestamp":1691458540000},"page":"271-275","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0115-2586","authenticated-orcid":false,"given":"S.","family":"Cabet","sequence":"first","affiliation":[{"name":"Pediatric and Fetal Imaging Department, Femme\u2010M\u00e8re\u2010Enfant Hospital, Hospices Civils de Lyon Claude Bernard Lyon 1 University  Lyon France"},{"name":"Institut NeuroMyoG\u00e8ne, CNRS UMR5292, INSERM U1028 Claude Bernard Lyon 1 University  Lyon France"},{"name":"Multidisciplinary Center for Prenatal Diagnosis, Femme\u2010M\u00e8re\u2010Enfant Hospital, Hospices Civils de Lyon Claude Bernard Lyon 1 University  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Putoux","sequence":"additional","affiliation":[{"name":"Multidisciplinary Center for Prenatal Diagnosis, Femme\u2010M\u00e8re\u2010Enfant Hospital, Hospices Civils de Lyon Claude Bernard Lyon 1 University  Lyon France"},{"name":"Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon Claude Bernard Lyon 1 University  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Lesca","sequence":"additional","affiliation":[{"name":"Institut NeuroMyoG\u00e8ne, CNRS UMR5292, INSERM U1028 Claude Bernard Lyon 1 University  Lyon France"},{"name":"Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon Claude Bernard Lyon 1 University  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Lesage","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging CHU Sainte\u2010Justine  Montr\u00e9al QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Massoud","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Multidisciplinary Center for Prenatal Diagnosis, CHLS Hospices Civils de Lyon  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5747-6654","authenticated-orcid":false,"given":"L.","family":"Guibaud","sequence":"additional","affiliation":[{"name":"Pediatric and Fetal Imaging Department, Femme\u2010M\u00e8re\u2010Enfant Hospital, Hospices Civils de Lyon Claude Bernard Lyon 1 University  Lyon France"},{"name":"Multidisciplinary Center for Prenatal Diagnosis, Femme\u2010M\u00e8re\u2010Enfant Hospital, Hospices Civils de Lyon Claude Bernard Lyon 1 University  Lyon 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