The gold standard for prenatal diagnosis is invasive (Chorionic villus sampling (CVS) or Aminiocentesis). But since there is a small but significant risk to pregnancy (1% miscarriage), women are reluctant to do the test. Besides, the price of these techniques is very high €875 (€300 per amniocentesis or CVS plus €400 for the karyotype plus €175 for the FISH). The need for genetic tests is increasing due to the rising average age of pregnant woman. Subsequently, the miscarriage risk as well as the diagnostic expenditure is escalating
In order to reduce health expenditure, the expensive gold standard is being substituted by a technique called Triple Screening (Biochemical tests and an Ecography) that advice whether or not to take the invasive test. Disadvantages: (i) Still expensive by itself (€160); (ii) If positive it still demands an invasive test; (iii) Very important false positive rate (83%) in order to guarantee low false negative rate (17%).
There are recent non-invasive techniques to detect prenatal genetic disorders based on fetal free DNA in mother´s blood. These novel techniques are only used for selected clinical applications in research/expert centres due to their complexity and cost for the extraction and detection.
Therefore, the main impact of ANGELAB main impact is the future substitution of conventional a very risky invasive procedures that put the fetus at risk with an automated, fast, simple and accurate non-invasive prenatal diagnostic test that uses a blood sample from the mother and has absolutely no risk for the fetus. Basically, we will offer certainties without health risk.