{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:40:56Z","timestamp":1787244056468,"version":"build-2736575974"},"reference-count":30,"publisher":"Georg Thieme Verlag KG","issue":"05","license":[{"start":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T00:00:00Z","timestamp":1734566400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82371965"],"award-info":[{"award-number":["82371965"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Capital\u2019s Funds for Health Improvement and Research","award":["CFH 2020-2-4074"],"award-info":[{"award-number":["CFH 2020-2-4074"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ultraschall Med"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>To explore the relationship between ultrasound signs of suspected fetal malformation of cortical development (MCD) and genetic MCD.<\/jats:p>\n                  <jats:p>The retrospective study involved fetuses with one of the following 10 neurosonography (NSG) signs: (A) abnormal development of the Sylvian fissure; (B) delayed achievement of cortical milestones; (C) premature or aberrant appearance of sulcation; (D) irregular border of the ventricular wall or irregular shape of the ventricle; (E) abnormal shape or orientation of the sulci; (F) hemispheric asymmetry; (G) non-continuous cerebral cortex; (H) intraparenchymal echogenic nodules; (I) persistent ganglionic eminence (GE) or GE cavitation; (J) abnormal cortical lamination.<\/jats:p>\n                  <jats:p>95 fetuses were included in the study. Chromosomal microarray (CMA) combined with exome sequencing (ES) was available in 40 fetuses, CMA was abnormal in nine and ES in 22. Sign C (7\/7, 100%), sign H (2\/2, 100%), sign A (18\/19, 94.7%), and sign B (12\/13, 92.3%) were the signs leading to the highest probability of genetic MCD. The incidence of genetic MCD for sign E, sign I, and sign D was 66.7\u201373.7%. Only one or none of the fetuses with sign J, sign F, or sign G underwent CMA+ES. The signs in the fetuses with FGFR3, CCND2, FLNA, or TSC2 mutations had the expected features. The other fetuses with different gene mutations showed several non-specific NSG signs.<\/jats:p>\n                  <jats:p>Several reliable signs for genetic MCD can be detected by NSG, and the probability varies with different signs. Most signs are not associated with a specific gene. Therefore, CMA combined with ES is preferred.<\/jats:p>","DOI":"10.1055\/a-2467-3362","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T18:53:19Z","timestamp":1734634399000},"page":"472-482","source":"Crossref","is-referenced-by-count":3,"title":["Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development"],"prefix":"10.1055","volume":"46","author":[{"given":"JunYa","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Obstetrics & Gynecology, Peking University First Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Obstetrics & Gynecology, Peking University First Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory, Peking University First Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YiNan","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory, Peking University First Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Peking University First Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LiLi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XinLin","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9868-3548","authenticated-orcid":false,"given":"Karina Krajden","family":"Haratz","sequence":"additional","affiliation":[{"name":"Ob-Gyn ultrasound unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,12,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"2874","DOI":"10.1093\/brain\/awaa174","article-title":"Definitions and classification of malformations of cortical development: practical guidelines","volume":"143","author":"M Severino","year":"2020","journal-title":"Brain"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1093\/brain\/aws019","article-title":"A developmental and genetic classification for malformations of cortical development: update 2012","volume":"135","author":"AJ 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