{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:00:44Z","timestamp":1791421244845,"version":"4.3.3"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010256","name":"Guangzhou Municipal Science and Technology Project","doi-asserted-by":"publisher","award":["SL2024A03J01534"],"award-info":[{"award-number":["SL2024A03J01534"]}],"id":[{"id":"10.13039\/501100010256","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":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses diagnosed in utero with a\n                      <jats:italic>PTEN<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      This retrospective study analyzed 14 cases of\n                      <jats:italic>PTEN<\/jats:italic>\n                      variants identified through prenatal ultrasound and subsequently confirmed by genetic testing. Clinical and laboratory data were collected for these cases, encompassing maternal demographics, prenatal sonographic findings, molecular testing results, and pregnancy outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 14 fetuses with (likely) pathogenic\n                      <jats:italic>PTEN<\/jats:italic>\n                      variants were included in the study. Five cases exhibited abnormalities on second\u2010trimester ultrasound scans; specifically, three presented with macrocephaly, one showed mild ventriculomegaly, and another had cardiac defects (coarctation of the aorta and ventricular septal defect). Nine additional cases were identified during the third trimester. Among these nine cases, six displayed macrocephaly with or without polyhydramnios and ventriculomegaly; one case had mild ventriculomegaly; another presented only with mild polyhydramnios; and one was characterized by macrosomia. Eleven cases involved de novo variants, whereas three variants were inherited from parents.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Macrocephaly emerged as the most prevalent sign observed in utero that prompted genetic detection of\n                      <jats:italic>PTEN<\/jats:italic>\n                      defects. This study encourages obstetricians to enhance their awareness regarding\n                      <jats:italic>PTEN<\/jats:italic>\n                      \u2010related disorders in fetuses presenting with macrocephaly.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6806","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T09:18:56Z","timestamp":1745313536000},"page":"817-824","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic Features of Fourteen Fetal Cases With a\n                    <i>PTEN<\/i>\n                    Variant"],"prefix":"10.1002","volume":"45","author":[{"given":"Qu\u2010Xia","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong\u2010Ling","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Si\u2010Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University  Guangzhou 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