{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T20:46:55Z","timestamp":1782938815272,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>We report a prenatal case of rare dysplastic megalencephaly detected via ultrasound and magnetic resonance imaging (MRI), showing progressive macrocephaly and abnormal cortical development. Whole\u2010exome sequencing (WES) identified a somatic AKT1 variant (c.49G&gt;A), confirming the diagnosis. This case highlights the integration of imaging and genetic analysis in diagnosing fetal megalencephaly, underscoring the role of mTOR pathway disorders. Pregnancy was terminated after counseling.<\/jats:p>","DOI":"10.1002\/jcu.70324","type":"journal-article","created":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T20:40:04Z","timestamp":1782938404000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Ultrasound and\n                    <scp>MRI<\/scp>\n                    in the Diagnosis of a Rare Fetal Dysplastic Megalencephaly Caused by\n                    <scp>AKT1<\/scp>\n                    Gene Variant"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3388-0472","authenticated-orcid":false,"given":"Chunying","family":"Li","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyu","family":"Song","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jifang","family":"Qian","sequence":"additional","affiliation":[{"name":"Medical Imaging Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Yang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yilin","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8886-1078","authenticated-orcid":false,"given":"Xiaojuan","family":"Lin","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,1]]},"reference":[{"issue":"19","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1002\/bdr2.1801","article-title":"Prenatal Diagnosis of Proteus Syndrome: Diagnosis of an AKT1 Mutation From Amniocytes","volume":"112","author":"Abell K.","year":"2020","journal-title":"Birth Defects Research"},{"key":"e_1_2_10_3_1","article-title":"One of the First Cases With PIK3CA\u2010Related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review","volume":"12","author":"Alsaedi S. 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J.","year":"2011","journal-title":"New England Journal of Medicine"},{"issue":"1","key":"e_1_2_10_9_1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01480-y","article-title":"Detailed Analysis of Phenotypes and Genotypes in Megalencephaly\u2010Capillary Malformation\u2010Polymicrogyria Syndrome Caused by Somatic Mosaicism of PIK3CA Mutations","volume":"15","author":"Park H. J.","year":"2020","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"3","key":"e_1_2_10_10_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes12030358","article-title":"Fetal Megalencephaly With Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism With PTEN Mutation","volume":"12","author":"Pooh R. K.","year":"2021","journal-title":"Genes"},{"key":"e_1_2_10_11_1","first-page":"667","article-title":"Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study","volume":"45","author":"Zhou H.","year":"2025","journal-title":"Prenatal Diagnosis"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.70324","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcu.70324","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.70324","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T20:40:06Z","timestamp":1782938406000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.70324"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,1]]},"references-count":10,"alternative-id":["10.1002\/jcu.70324"],"URL":"https:\/\/doi.org\/10.1002\/jcu.70324","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"value":"0091-2751","type":"print"},{"value":"1097-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,1]]},"assertion":[{"value":"2025-11-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"jcu.70324"}}