{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:34:57Z","timestamp":1790184897375,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T00:00:00Z","timestamp":1740528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To present prenatal sonographic features, genomic results, and pregnancy outcomes of fetuses with KBG syndrome (KBGS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This was a retrospective study of 12 cases with KBGS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected for these cases, including maternal demographics, prenatal sonographic findings, molecular test results, and pregnancy outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twelve cases of KBGS were diagnosed prenatally with confirmatory genetic testing. Five had an abnormal first\u2010trimester ultrasound with increased nuchal translucency (NT). Seven cases had a normal first\u2010trimester ultrasound. Among these, four had mild ventriculomegaly in the second or third trimester, one had an arachnoid cyst found at 22\u00a0weeks, one had umbilical\u2010systemic shunt, ventriculomegaly and polyhydramnios found at 24\u00a0weeks, and one presented with fetal growth restriction at 30\u00a0weeks. Four pregnancies continued to term, and infants presented with the classic phenotype of KBGS at a follow\u2010up of 12\u00a0months. All <jats:italic>ANKRD11<\/jats:italic> alterations in the 12 cases were de novo, and were characterized as either deletions encompassing <jats:italic>ANKRD11<\/jats:italic> or loss\u2010of\u2010function variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Increased NT and mild ventriculomegaly are two common sonographic features of fetal KBGS. Prenatal diagnosis of KBGS can be achieved with ultrasound and comprehensive molecular testing.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6768","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T06:29:15Z","timestamp":1741760955000},"page":"551-558","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder"],"prefix":"10.1002","volume":"45","author":[{"given":"Xiang\u2010Yi","family":"Jing","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiu\u2010Xia","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Guangzhou Women and Children's 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's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi\u2010Qing","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4583-6800","authenticated-orcid":false,"given":"Dong\u2010Zhi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,26]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61524"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13977"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1285"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.5958"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63311"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.007"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12799"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010024\u201048955\u20101"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62632"},{"issue":"7","key":"e_1_2_11_11_1","first-page":"663","article-title":"Gender Difference in Clinical Manifestations of KBG Syndrome Due to Variants of ANKRD11 Gene","volume":"38","author":"Yang Y.","year":"2021","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac167"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2023.2193285"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6339"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2023.12.030"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37842"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102023\u2010109141"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.193.2.7972753"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469\u20100705.1993.03020089.x"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpm.2010.048"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15943"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2019.01.015"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524017666170303125529"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2022.10.006"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2022.04.025"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1177137"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild\u20102021\u2010321984"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2018.04.001"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20111"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2018.04.039"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14906"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.4103\/jmu.jmu_126_23"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2022.04.022"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.4081\/pr.2017.7211"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30582"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac289"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102022\u2010108632"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6768","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T13:36:44Z","timestamp":1744378604000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6768"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,26]]},"references-count":36,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/pd.6768"],"URL":"https:\/\/doi.org\/10.1002\/pd.6768","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,26]]},"assertion":[{"value":"2024-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}