{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T00:48:55Z","timestamp":1693961335877},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"01","license":[{"start":{"date-parts":[[2018,2,9]],"date-time":"2018-02-09T00:00:00Z","timestamp":1518134400000},"content-version":"vor","delay-in-days":39,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Surg J"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>\n            Objective\u2003To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA).<\/jats:p><jats:p>\n            Study Design\u2003We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016.<\/jats:p><jats:p>\n            Results\u2003There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30.2%) had a thickened nuchal translucency. There were an additional four fetuses with second-trimester sonographic abnormalities. Overall, 23 (53.5%) fetuses were found to have a major anomaly diagnosed by ultrasound. The rate of first-trimester sonographic abnormalities varied widely based on category of chromosomal abnormalities with high rates seen with triploidy (87.5%) and autosomal trisomy (80%) and lower rates seen with structurally abnormal chromosomes (33.3%), trisomy mosaicism (27.3%), other forms of mosaicism (11.1%), and deletions or duplications (25.0%), p\u2009&lt;\u20090.001.<\/jats:p><jats:p>\n            Conclusion\u2003The majority of fetuses with uncommon chromosomal abnormalities in our cohort had major sonographic anomalies. The use of first-trimester ultrasound with nuchal translucency measurement may offer utility in identifying fetuses with risk of aneuploidy that would not be detectable with cfDNA.<\/jats:p>","DOI":"10.1055\/s-0038-1624564","type":"journal-article","created":{"date-parts":[[2018,2,9]],"date-time":"2018-02-09T23:41:55Z","timestamp":1518219715000},"page":"e1-e6","source":"Crossref","is-referenced-by-count":1,"title":["The Use of Ultrasound as a Potential Adjunct to Cell-Free Fetal DNA Screening for Aneuploidy at Weill Cornell Medical College, New York, USA"],"prefix":"10.1055","volume":"04","author":[{"given":"Jessica","family":"Scholl","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Chasen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2018,2,9]]},"container-title":["The Surgery Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0038-1624564.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T20:12:24Z","timestamp":1557173544000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0038-1624564"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":0,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2018,2,9]]},"published-print":{"date-parts":[[2018,1]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0038-1624564","relation":{},"ISSN":["2378-5128","2378-5136"],"issn-type":[{"value":"2378-5128","type":"print"},{"value":"2378-5136","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1]]}}}