{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:31:23Z","timestamp":1790775083062,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T00:00:00Z","timestamp":1765065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T00:00:00Z","timestamp":1765065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Fetal macrocephaly (HC\n                      <jats:italic>Z<\/jats:italic>\n                      \u2010score \u2265 +2) is a common reason for referral for neurosonography. While most cases are benign and asymptomatic, syndromic macrocephaly poses a significant risk of abnormal neurodevelopment. This study aimed to describe the sonographic and genetic features of fetuses at the highest risk of syndromic macrocephaly.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We retrospectively analyzed 19 fetuses with either HC\n                      <jats:italic>Z<\/jats:italic>\n                      \u2010scores \u2265\u00a0+2.5 or those with \u2265\u00a0+2 and associated anomalies, evaluated between January 2015 and October 2024. Assessments included fetal neurosonography, anomaly scans, MRI, and genetic work\u2010up. Outcomes and postnatal\/postmortem data were reviewed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Mean gestational age at the time of diagnosis was 29.6\u00a0weeks (range 23\u201335.4\u00a0weeks). Seventeen fetuses (89%) had associated anomalies: large for gestational age (12\/19), callosal abnormalities (11\/19), malformation of cortical development (13\/19), and facial dysmorphism (11\/19) were diagnosed. Genetic investigation results (CMA) were available for 17 of the 19 patients. Overall, 14 of the 17 patients had abnormal genetic findings, mostly involving mTOR pathway\n                      <jats:italic>genes<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      High\n                      <jats:italic>Z<\/jats:italic>\n                      \u2010scores and additional imaging findings strongly correlate with genetic abnormalities, most often mTOR\u2010related. These results support the integration of exome sequencing into prenatal evaluation of fetal macrocephaly.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70049","type":"journal-article","created":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T16:16:23Z","timestamp":1765124183000},"page":"125-137","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Fetal Macrocephaly: Prenatal Findings and Follow\u2010Up in Cases With High Risk for Abnormal Outcome"],"prefix":"10.1002","volume":"46","author":[{"given":"Hadas","family":"Miremberg","sequence":"first","affiliation":[{"name":"Division of Obstetric Ultrasound Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv 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