Abstract
Down's syndrome is the most commonly reported cause of mental retardation in children as well as the most frequently diagnosed constitutional chromosomal aberration. For that reason, prenatal diagnosis particularly targeted its effort on this chromosomal defect.
The gradual development of invasive techniques of prenatal diagnostics made reliable prenatal diagnosis of Down's syndrome possible. Along with the development of these techniques there was a constant effort to introduce screening tests and screening programmes.
The progress of prenatal diagnosis in the Czech Republic always reflected the worldwide advancement in this field. Recent results show that a population-wide second trimester screening is, in many prenatal diagnostic centres, completed with a combined first trimester screening, which has a detection rate of 90-95%.
This trend corresponds with a decrease in mean gestational age at the time of Down's syndrome prenatal diagnosis. In the Czech Republic, there is not only a high prenatal detection rate of Down's syndrome, but also an evenly distributed nationwide use of the above mentioned techniques