The Genetic Sonogram—Structural Anomalies in the Assessment of Trisomy 21: Case Reports and a Literature Review

Abstract

The detection of sonographic markers can modify the risk of fetal Down syndrome (DS) and is the basis of the so-called genetic sonogram.We present herein our experience with five cases found during early anomaly scan. They all share a common pathology-DS, but each has a different sonographic appearance with unique structural abnormalities. The detailed cases are desrcibed along with literature review of the sonographic findings. Using the 'soft' markers alone as a basis of deciding to offer amniocentesis will result in more fetal losses than DS detected. Therefore, the use of the genetic sonogram, especially in early pregnancy, based mainly on structural anomalies, will lessen the false-positive DS detection.