Chromosomal defects are an important cause of death and handicap. Down syndrome is the most common of them and the diagnosis the most common indication for invasive procedures during pregnancy (chorionic villous sampling or amniocentesis) with a risk of miscarriage of 1 % .
We can offer different screening test for Down syndrome during pregnancy. Research in the last 40 years has proven that there are other test rather than maternal age to select the patients at risk for this chromosomal defect. This has not only increased the detection rate for that but also reduced the false positive rate of the tests, lowering unnecessary invasive procedures and iatrogenic miscarriages. In this review there are evidences of the different screening test offered during pregnancy, the way of combining the results of them and the attitudes of pregnant women to the results.