Veronika Frisová
This article reviews the various methods of screening for Down syndrome from the historically oldest one based on maternal age up to the newest methods like contingent, sequential and integrated test. Nowadays, the majority of European centers aims to perform the combined test which consists of examination of PAPP-A and free ß-HCG in the maternal blood and the ultrasound examination of nuchal translucency in the 11.-14. weeks of pregnancy. This test allows to achieve the detection rate of about 90 % at 5 % false positive rate. A first-trimester test fully respects the women’s preferences as they wish to know the result as early as possible.
Keywords: screening, Down syndrome, nuchal translucency, soft markers, combined test