Ultrasonographic soft markers of aneuploidy in second trimester fetuses

Abstract

Objective: To evaluate ultrasound “soft markers” used in fetal genetic screening. Options: Ultrasound screening at 16–20 weeks is one of the most common genetic screening tests used during pregnancy. The practical concern for ultrasound screening is false-positive and false-negative results. The use and understanding of ultrasound soft markers and their screening relative risks are an important option in the care of pregnant women. Introduction: Chromosomal abnormalities occur in 0.1–0.2% of live births, and the most common clinically significant aneuploidy among live-born infants is Down’s syndrome (trisomy 21). Soft markers of aneuploidy are nonspecific, often transient, and can be readily detected during the second and third trimester ultrasound. The most commonly studied soft markers of aneuploidy include a thickened nuchal fold, mild fetal pyelectasis, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst. There is a great deal of interest in the ultrasound detection of aneuploidy, as evidenced by the large number of publications in the literature on this topic.