Ultrasound Prenatal Diagnosis of Chromosomal Anomalies in the First and Second Trimester of Pregnancy

Abstract

On ultrasound in the second trimester of pregnancy, as well as in the first trimester, each chromosomal disorder has specific syndromic features. In this regard, if any anomaly/marker is detected in the fetus during a routine ultrasound examination, a detailed search for other manifestations characteristic of this chromosomal pathology should be carried out, since if other markers or malformations are detected, the individual risk of this pathology increases significantly. When an isolated anomaly is detected in the fetus, the decision to perform an invasive intervention depends on the nature of this anomaly.