Česky
The most common genetic diseases are Down's, Edwards and Patau syndromes, which can be detected in 90-95% of cases. However, this is not a diagnostic method, so if there is an increased risk, further testing is recommended.
The whole screening process takes place in two separate steps. The first is a blood test, which is usually carried out at 11 weeks of pregnancy to check the levels of three pregnancy hormones. The result should be ready before the second stage, the ultrasound scan, so that the expectant mother can know the full result of the test right away. The ultrasound scan is ideally performed at the end of the first trimester, i.e. in the 12th to 13th week. A properly performed detailed ultrasound examination at this stage of pregnancy can detect more than 50% of serious birth defects.
In the case of a positive screening, further testing is recommended, which is indicated by a clinical geneticist in consultation with the pregnant woman. In some cases, non-invasive testing of free fetal DNA from the mother's blood (NIPT), which is not yet covered by health insurance (the cost is around CZK 10-12 thousand), is appropriate. In other cases, amniotic fluid or placenta sampling is advisable.
Pre-eclampsia is a very serious disease that occurs only in pregnancy and often threatens the life and health of both the mother and the fetus. In the event of a positive screening for pre-eclampsia, we will immediately put the pregnant woman on Anopyrin, eliminating the risk of this serious condition by up to 90%.
A complete examination of genetic defects of the fetus and pre-eclampsia currently costs CZK 2000 at the Hořovice Hospital and we recommend that parents make an appointment for it in advance. Most health insurance companies will reimburse pregnant women for this amount on the basis of an invoice.
Currently, it is also offered by the Diagnostic Centre in Prague under the direction of MUDr. Peter Plevak.
