Gabriel Minárik, Martina Sekelská, Lucia Valentínová, Anita Izsáková, Mária Venghová, Žaneta Kúchová, Renáta Lukačková, Dagmar Landlová, Michaela Hýblová, Jaroslav Budiš, Tomáš Szemes, Peter Križan
Non-invasive prenatal testing of most common trisomies, based on analysis of circulating DNA from blood of pregnant
women, becomes an essential part of prenatal screening.
The aim of the work was a prospective study of utilisation of TRISOMY test® for the non-invasive prenatal screening
of the most common trisomies of chromosomes 21, 18 and 13.
From September 2015 to December 2016, 2980 samples of pregnant women were analysed using TRISOMY test®. Of
them, 2805 were euploid, 58 trisomic. After analysis of the first blood sample, 117 cases were found to be nonreportable.
Among trisomic samples 41 samples were detected with trisomy 21, 11 samples were detected with trisomy 18
and 6 samples were detected with trisomy 13. Two false negative samples (T21 and T18) and two false positives (T21
and T13) were recorded. The total sensitivity of the method used for detection of all three trisomies was 96.55%. Total
specificity of the method was 99.93%.