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With the advent of high\u2010resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus can be gained and provided to the patient at a very early stage in gestation. This article provides an overview of the role of first trimester (11\u201313\u2009+\u20096 weeks' gestation) ultrasound in screening and diagnosis of fetal anomalies. The first trimester is an ideal time for screening for aneuploidy, primarily due to the advantages that nuchal translucency (NT) measurement provides. NT measurement is also useful in establishing the risk of congenital cardiac disorders and a number of genetic and non\u2010genetic syndromes. Significant NT thickening is associated with an increase in perinatal morbidity and mortality. Potential mechanisms resulting in increased NT are discussed. A number of new ultrasound markers for fetal aneuploidy have been investigated over the past several years, some of which appear to improve the screening efficacy of early ultrasonography. The role of these is reviewed. A number of fetal anomalies can now be consistently diagnosed in the first trimester. Their appearance at this early gestational age is discussed as well. It is clear that, data obtained by first trimester ultrasound are useful in counseling expectant parents and in planning the appropriate follow\u2010up. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30120","type":"journal-article","created":{"date-parts":[[2007,2,15]],"date-time":"2007-02-15T18:40:07Z","timestamp":1171564807000},"page":"45-61","source":"Crossref","is-referenced-by-count":52,"title":["First trimester ultrasonography in screening and detection of fetal anomalies"],"prefix":"10.1002","volume":"145C","author":[{"given":"Jiri","family":"Sonek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2,15]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"69","article-title":"First\u2010trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography","volume":"84","author":"Achiron R","year":"1994","journal-title":"Obstet 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