Abstract
Prenatal screening for chromosome abnormalities is a typical example of interdisciplinary cooperation in which involves gynaecologists, midwives, laboratories and genetics. Only their efficient cooperation and responsiveness are possible to guarantee fast and correct results to pregnant woman.
Current methods for screening of major aneuploidies, p imarily for Down's syndrome, are based on the measurement of biochemical and ultrasonography markers. For calculation of risk are used various algorithm, which differ by used biochemical or ultrasound markers, by time of sampling and of course by detection rate.
In Czech Republic are used all type of aneuploidy screening, which differ also by cost for pregnant woman. New developments in the area of screening include the possibility of testing for Down's syndrome by extraction of foetal cell-free nucleic acids from a maternal serum sample.
This method is safe for foetus and is enabling to detect some other genetic diseases.