Rapid improvements in the field of prenatal medicine have been achieved due to the technological advancement of ultrasonography that has allowed recognition of various ultrasonographic findings and their combination with biochemical results and demographic characteristics in order to estimate a final individual risk for a chromosomal anomaly of the fetus and analysis of short fragments of fetal DNA released into the mother's bloodstream through a natural process of cell death. Invasive testing still remains the main clinically available diagnostic modality for the definite diagnosis of both chromosomal anomalies and many single-gene disorders. Amniocentesis is performed between 15 and 20 weeks of pregnancy to obtain fetal cells for genetic testing. This method is performed almost in the middle of pregnancy, and waiting for the results of the analysis may indicate termination of pregnancy in the second trimester. Chorionic villus sampling (CVS), usually performed between 11⁺⁰ and 13⁺⁶ weeks of gestation, is one of the invasive diagnostic methods used to diagnose chromosomal, genetic, and metabolic diseases in the embryonic period. Invasive procedures such as CVS and amniocentesis still remain the only definitive diagnostic tests for aneuploidy in pregnancy. CVS, as an invasive procedure carried out with experienced physicians in specialist centers, is not associated with a significant increase in fetal loss rate, with a risk rate below 0.5%, and the possible background risk for miscarriage is significantly higher in the presence of fetal anomaly and abnormal karyotype. Ultrasound-guided transabdominal (TA) CVS is a useful outdoor procedure and is considered the method of choice for fetal sampling and accurate early prenatal diagnosis.