{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:19:07Z","timestamp":1747149547525,"version":"3.40.5"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T00:00:00Z","timestamp":1625702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present two consecutive pregnancies with shared ultrasound findings\u2014sloping forehead, micrognathia, ambiguous genitalia, brachycephaly, short extremities, single umbilical artery, choroid plexus cysts, and clenched hands. Subsequent whole exome sequencing identified <jats:italic>TRAIP<\/jats:italic> gene variants implicating diagnosis of Seckel syndrome 9 (SCKL9). Prenatal testing in subsequent pregnancy identified one variant. Our case highlights the utility of whole exome sequencing when prenatal ultrasound findings lend suspicion. Molecular confirmation allows for testing strategies in, or prior to, subsequent pregnancies. The finding of a rare, novel missense variant in <jats:italic>TRAIP<\/jats:italic> gene further implicates this mutation as having deleterious clinical manifestations.<\/jats:p>","DOI":"10.1002\/jcu.23040","type":"journal-article","created":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T07:27:11Z","timestamp":1625729231000},"page":"395-398","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal ultrasound diagnosis of Seckel syndrome with bi\u2010allelic variant in <scp><i>TRAIP<\/i><\/scp> via exome sequencing"],"prefix":"10.1002","volume":"50","author":[{"given":"Daragh","family":"Conrad","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Section on Maternal Fetal Medicine Wake Forest University School of Medicine  Winston\u2010Salem North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christy","family":"Stanley","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Section on Maternal Fetal Medicine Wake Forest University School of Medicine  Winston\u2010Salem North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9627-7076","authenticated-orcid":false,"given":"Jeffrey","family":"Denney","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Section on Maternal Fetal Medicine Wake Forest University School of Medicine  Winston\u2010Salem North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen","family":"Quinn","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Section on Maternal Fetal Medicine Wake Forest University School of Medicine  Winston\u2010Salem North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,8]]},"reference":[{"volume-title":"Bird headed dwarfs. Studies in developmental anthropology including human proportions","year":"1960","author":"Seckel HPG","key":"e_1_2_8_2_1"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120103"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3451"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2017.1419467"},{"issue":"3","key":"e_1_2_8_6_1","first-page":"70","article-title":"Antenatal diagnosis of Seckel syndrome: A rare case report","volume":"8","author":"Vascone C","year":"2014","journal-title":"J Prenat Med"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270119"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1384"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.23040","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcu.23040","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.23040","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T18:15:05Z","timestamp":1692987305000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.23040"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,8]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/jcu.23040"],"URL":"https:\/\/doi.org\/10.1002\/jcu.23040","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"type":"print","value":"0091-2751"},{"type":"electronic","value":"1097-0096"}],"subject":[],"published":{"date-parts":[[2021,7,8]]},"assertion":[{"value":"2021-03-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}