František Cisárik
The author analysed prenatal genetic diagnostics in the year 2007. The data were obtained from the departments and laboratories of clinical genetics in Slovakia. The results from the year 2007 were compared with the results of previous years. In 2007 prenatal genetic diagnostics was performed to 3 505 women accounting for 6.4 % of all pregnant women. Indications substantially changed within previous years. Positive prenatal biochemical screening indicated 57 % of cases and maternal age over 35 indicated 30 % of cases. The frequency of indications due to positive sonographic markers of a higher risk of chromosomal anomalies or detection of a morphological defect of the foetus increased to 4.3 %. The frequency of chromosomal anomalies in this group was the highest (16.5 %), whereas the mean frequency of all indications was 2.82 %. From 99 detected chromosomal anomalies we expect a serious phenotype expression in 68 % of them.