Martin Juhás, Anton Čunderlík, Igor Rusňák, Jozef Janovský
In the study we compared the quality of prenatal screening for trisomy 21 using a multiple marker combined test in
cases of low risk results and after recalculation with the Age Adjusted Ultrasound Risk Assessment for Down syndrome
scoring scheme during the second trimester anomaly scan. Out of 687 monitored patients we observed 2 foetuses with
trisomy 21. The highest true positive rate was recorded when linking up the combined test and second trimester ultrasound
with the Age Adjusted Ultrasound Risk Assessment for Down syndrome scoring scheme. By recalculating first
trimester risks using the Age Adjusted Ultrasound Risk Assessment for Down syndrome scoring scheme we are able to
increase the detectability of trisomy 21 at an acceptable false positive rate.