Sonographic markers of fetal aneuploidy

A variety of ultrasound findings can be identified in fetuses with fetal aneuploidy. Typical findings vary with both the chromosome abnormality and gestational age at time of the ultrasound examination. Increased NT is the primary marker during the first trimester, whereas a variety of markers may be seen during the second trimester. The presence of ultrasound markers increases the risk for fetal aneuploidy, whereas a normal ultrasound reduces the risk. Optimal risk assessment includes consideration of other risk factors including maternal age, family history, and biochemical markers. It is expected that combined risks, incorporating ultrasound findings and biochemistry, will be available in the near future. How first-trimester screening is integrated with second-trimester screening remains to be determined.