The value of minor ultrasound markers for fetal aneuploidy

As a result of improvements in ultrasound image quality and scanning technique, an increasing number of subtle morphological changes in fetal anatomy have been identified in the second trimester. Most of these ultrasound features were originally described as normal variants of development with no clinical significance. However, subsequent studies in high-risk populations showed that some of these variants were more prevalent in fetuses with chromosomal defects and therefore proposed as prenatal markers for the detection of aneuploidy. The implications for pregnancy management when one of these so-called minor ultrasound markers is detected have been a matter of continuous controversy in the field of prenatal diagnosis and yet the definitive answer on their clinical significance in the low-risk population is still debated.