Tomáš Szemes, Gabriel Minárik, Michaela Hýblová
Towards the end of the year 2011, the first test for determination of common fetal aneuploidies non-invasively
became available, which combined novel findings from biomedical research and new technologies for DNA
sequencing, or in other words technologies for determination of primary structure of DNA. Test which is currently
available from different providers, including a domestic TRISOMY test, became the fastest adopted molecular-
genetic test so far. Thanks to low number of false positive cases and high sensitivity, the test allows significant
reduction of unnecessary amniocenteses especially in the group of pregnant women with elevated risk of
common chromosomal aneuploidies. The test uses the phenomenon of cell free fetal DNA present in maternal
circulation, which was discovered in 1997. Current implementation of the available tests for common fetal aneuploidies
are the result of 15 years of intensive basic research in this field as well as developments in the field of
genomic technologies.