Abstract
Major advances have been achieved in the screening for Down syndrome, in particular in the last decade. The historically oldest one method was based on maternal age and was connected with an amniocentesis at all women above the age of 35 years.
This screening approach was first replaced by the second trimester biochemistry (triple/quadruple test) and afterwards by a combined test, which consists from the examination of concentration of PAPP-A and β-hCG in the maternal blood and ultrasound assessment of the nuchal translucency in the first trimester. Following positive changes have been achieved: marked improvement of the screening performance (90%DR), change in timing of the screening (first trimester), change in the time of karyotyping (first trimester) and change in the time of termination of affected pregnancies (first trimester).
The combined test has slowly become the main method of screening and research is now focused on further improvement of the performance of the 1st trimester screening.