{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T08:02:58Z","timestamp":1759564978268},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,5,10]],"date-time":"2007-05-10T00:00:00Z","timestamp":1178755200000},"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":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Approximately 90% of Down syndrome cases are detected during first\u2010trimester screening. We aimed to determine the potential effectiveness of second\u2010trimester genetic sonography as a sequential screen for Down syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this simulation study, published statistical parameters for first\u2010trimester free <jats:italic>\u03b2<\/jats:italic>\u2010human chorionic gonadotropin, pregnancy\u2010associated plasma protein\u2010A and nuchal translucency thickness, and second\u2010trimester ultrasound markers (nuchal fold, hyperechoic bowel, short humerus, short femur, echogenic intracardiac focus, pyelectasis and major abnormality) were used to model the effectiveness of second\u2010trimester genetic sonography combined with first\u2010trimester screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>First\u2010trimester combined screening alone resulted in a detection rate of 88.5% with a 4.2% false\u2010positive rate. A follow\u2010up genetic ultrasound examination in which only one sonographic marker was found and previous results were not taken into account would detect an additional 8% of Down syndrome cases for an additional false\u2010positive rate of 13.2%. Using individual marker likelihood ratios to modify the first\u2010trimester risk for screen\u2010negative patients, genetic sonography detected an additional 6.1% of Down syndrome cases for an additional 1.2% false\u2010positive rate, giving a total detection rate of 94.6% and a total false\u2010positive rate of 5.4%. In a contingent protocol, in which genetic sonography would be performed only for patients with a first\u2010trimester risk of between 1\/300 and 1\/2500, the detection rate was 4.8% and the false\u2010positive rate was 0.7%, giving a total detection rate of 93.3% and a total false\u2010positive rate of 4.9%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Second\u2010trimester genetic sonography, if used properly, can be an effective sequential screen following first\u2010trimester Down syndrome screening. Further studies on the role of the genetic sonogram as a follow\u2010up to first\u2010trimester combined screening are warranted. Copyright \u00a9 2007 ISUOG. Published by John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.4029","type":"journal-article","created":{"date-parts":[[2007,5,10]],"date-time":"2007-05-10T14:00:18Z","timestamp":1178805618000},"page":"666-670","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Genetic sonography after first\u2010trimester Down syndrome screening"],"prefix":"10.1002","volume":"29","author":[{"given":"D. A.","family":"Krantz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. W.","family":"Hallahan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. J.","family":"Macri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. 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