František Cisárik
Data on prenatal genetic testing in the Slovak Republic (SR) have been statistically monitored since 1991 via questionnaires
from medical genetic work places and since 2014 also through new statistical forms about case studies ’the Report
of congenial foetal defect – genetics’ sent to the National Centre for Health Information. In 1994 – 2010 the frequency
of amniocenteses/chorionic villus sampling had a growing trend – from 1784 to 3707 yearly. Since 2010 it has a declining
trend – the decline in amniocenteses/chorionic villus sampling to 2872 in 2014. The frequency of prenatal diagnosis
of chromosomal anomalies in 2002 – 2014 grew from 2.1 % to 5.4 %. In SR in 2014 there was the highest detection
rate of chromosomal anomalies at positive biochemical screening and detections of foetal ultrasound markers
(22.7 %), at a developmental foetal defect detected with ultrasound examination (17.8 %), abnormal biochemical screening
(10.6 %) and the lowest in pregnant women at the age over 35 years with negative biochemical screening (1.8 %).