Prenatal genetic diagnostics

Universal screening is a complex program focused on determining Down Syndrome and congenital developmental defects of a foetus. This screening brings 100% capturability for Down Syndrome and consists of mutually connected examinations, which are the combined test and genetic serum examinations from the mother’s blood, the so-called NIPT.

The mentioned screening significantly eliminates the deficiencies of NIPT testing of free foetal DNA from the mother’s blood (NIPT tests are, for example, MEDIREX – Trisomy test, BGI – PRENASCAN, BGI – NIFTY, Ariosa – Harmony test etc...). The deficiencies of NIPT testing are significantly influenced by the amount of foetal DNA fraction in the mother’s blood. The table below clarifies the deficiencies of NIPT testing versus universal screening with respect to the measure of false positives and detectability.