{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:10:57Z","timestamp":1783653057983,"version":"3.55.0"},"reference-count":6,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T00:00:00Z","timestamp":1716336000000},"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":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trio exome sequencing was performed on a female fetus with an increased nuchal translucency, along with nasal bone hypoplasia, suspected cleft palate and abnormal outflow tract of the heart. A de novo heterozygous variant c.5500_5507del, p.(Tyr1834Argfs \u00d7 58) in the <jats:italic>MED12<\/jats:italic> gene was detected. Loss\u2010of\u2010function variants in <jats:italic>MED12<\/jats:italic> in females are associated with Hardikar syndrome (HS). A follow\u2010up ultrasound at 15<jats:sup>+5<\/jats:sup>\u00a0weeks of gestation identified multiple fetal anomalies including bilateral cleft lip and palate, diaphragmatic hernia, atrioventricular septal defect, persistent truncus arteriosus, and bilateral renal pelvis dilation. Fetal autopsy confirmed the prenatal sonographic findings, and the <jats:italic>MED12<\/jats:italic> variant was discussed by our multidisciplinary team to be the cause of fetal anomalies. Our case is the first prenatal one in which HS was diagnosed due to first trimester structural malformations. This case report presents another example of early identification of a major anomaly which allows earlier genetic diagnosis and more time for clinical management.<\/jats:p>","DOI":"10.1002\/pd.6594","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T01:48:41Z","timestamp":1716428921000},"page":"999-1002","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel <i>MED12<\/i> pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester"],"prefix":"10.1002","volume":"44","author":[{"given":"Wei\u2010Si","family":"Dai","sequence":"first","affiliation":[{"name":"Department of Ultrasound The Sixth Affiliated Hospital Sun Yat\u2010Sen University  Guangzhou Guangdong China"},{"name":"Biomedical lnnovation Center The Sixth Affiliated Hospital Sun Yat\u2010sen University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan\u2010Dong","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ultrasound The Sixth Affiliated Hospital Sun Yat\u2010Sen University  Guangzhou Guangdong China"},{"name":"Biomedical lnnovation Center The Sixth Affiliated Hospital Sun Yat\u2010sen University  Guangzhou Guangdong 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":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201001031\u20107"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62756"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12050663"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.5124"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6389"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.26106"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6594","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T02:38:49Z","timestamp":1720060729000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6594"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,22]]},"references-count":6,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1002\/pd.6594"],"URL":"https:\/\/doi.org\/10.1002\/pd.6594","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,22]]},"assertion":[{"value":"2024-03-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}