First-trimester diagnosis of body stalk anomaly using 2- and 3-dimensional sonography

To determine the sonographic features of body stalk anomaly in the first trimester using 2-dimensional (2D) and 3-dimensional (3D) sonography, we conducted a retrospective analysis of all nuchal translucency sonographic examinations performed between January 1, 2006, and January 1, 2010, at our institution. From a total of 6952 nuchal translucency sonographic examinations, 4 cases of body stalk anomaly were identified. All cases were characterized by an absent umbilical cord and a large ventral wall defect with herniation of the abdominal contents into the extraembryonic coelom. Associated features included kyphoscoliosis, limb defects, and enlarged nuchal translucency measurements. Three-dimensional sonography was a useful adjunct to 2D techniques in determining the precise relationship of fetal structures to the amniotic cavity. Our case series emphasizes the importance of a thorough anatomic survey at the time of nuchal translucency screening and the value of 3D sonography in the delineation of first-trimester anomalies.