Soft Markers of Down Syndrome

Abstract

Down syndrome is the most common congenital cause for mental disability. It is an aneuploidy that is potentially detectable in the prenatal period by biochemical and ultrasound markers. The ultrasound findings (soft markers) are not structural anomalies per se and are usually clinically insignificant except for their association with aneuploidy. However, these soft markers are particularly important in screening for trisomy 21 fetuses as majority of them will not have any major congenital anomalies detectable on ultrasound.