{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T05:46:51Z","timestamp":1769060811789,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2024,10,19]],"date-time":"2024-10-19T00:00:00Z","timestamp":1729296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzen Municipality","doi-asserted-by":"publisher","award":["SZSM202311005"],"award-info":[{"award-number":["SZSM202311005"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aims to elucidate two distinct fetal ultrasound features associated with aberrant brain sulcus formation as potential prenatal markers for Sotos syndrome caused by mutations in the NSD1 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This retrospective study investigated three fetuses across two pregnancies, including a pair of monochorionic diamniotic twins, all diagnosed with Sotos syndrome via whole exome sequencing (WES). Comprehensive clinical and laboratory data were collected and analyzed. Each fetus underwent a series of specialized neurosonographic assessments to evaluate the development of the cerebral cortex.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All three fetuses exhibited aberrant brain sulcus formation characterized by Sylvian fissure (SF) abnormalities and shallow parietooccipital sulcus (POS). WES revealed the presence of two de novo NSD1 variants in these fetuses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Fetal aberrant brain sulcus formation may represent a distinctive ultrasound feature indicative of Sotos syndrome, thereby offering additional diagnostic insights for the identification of this condition.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6686","type":"journal-article","created":{"date-parts":[[2024,10,19]],"date-time":"2024-10-19T14:09:36Z","timestamp":1729346976000},"page":"1641-1646","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3038-0931","authenticated-orcid":false,"given":"Caiqun","family":"Luo","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Nanfang Hospital Southern Medical University  Guangzhou China"},{"name":"Maternal Fetal Medicine Center Shenzhen Maternity and Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"Medical Genetic Center Shenzhen Maternity and Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6260-9511","authenticated-orcid":false,"given":"Hui","family":"Wang","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Center Shenzhen Maternity and Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LiYuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Center Shenzhen Maternity and Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"XiaoXia","family":"Wu","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Center Shenzhen Maternity and Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Geng","sequence":"additional","affiliation":[{"name":"Medical Genetic Center Shenzhen Maternity and Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huaxuan","family":"Wen","sequence":"additional","affiliation":[{"name":"Ultrasound Department Shenzhen Maternity and Child Healthcare Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengli","family":"Li","sequence":"additional","affiliation":[{"name":"Ultrasound Department Shenzhen Maternity and Child Healthcare Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiqing","family":"Wu","sequence":"additional","affiliation":[{"name":"Medical Genetic Center Shenzhen Maternity and Child Healthcare Hospital Southern Medical University  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Nanfang Hospital Southern Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,19]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201686"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20568"},{"key":"e_1_2_11_4_1","first-page":"228","article-title":"First Identified Korean Family With Sotos Syndrome Caused by a Novel Intragenic Mutation in NSD1","volume":"44","author":"Park S. 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