Early detaction of hereditary diseases in newborns
During the course of Baby-Check PLUS the experts of the clinic screens for the following rare diseases, in which treatment is possible and early detection represents a significant benefit for those concerned.
A number of serious disorders of the immune system known under the collective term „severe combined immunodeficiency“ (SCID) are caused by a malfunction or a lack of immune cells and can even be lethal if untreated. The clinic screens for T cell-dependent SCID.
Lysosomal Storage Diseases:
Due to enzyme defects exogenous and endogenous substances can only be metabolized at a slow rate or not at all (lysosomes are cell components that help metabolize substances.) The disorder leads to cell and organ damage (including heart, kidney, liver) that may occur in childhood, adolescence or adulthood. The test screens for Pompe disease, Gaucher disease, Fabry disease, Krabbe disease and MPS I.
- For the baby-check plus – as part of blood collection for the standard Austrian screening, usually on the 2nd or 3rd day of life – a few extra drops of blood are applied onto a second blood card.
- In about 90% of cases the test results are available within two weeks. The written findings will be mailed to you if they prove to be inconspicuous. In some isolated cases where results are inconclusive, the test can be repeated with a new blood card free of charge.
If the results are notable, you will be contacted by the pediatrician. Further tests to safely confirm or rule out a disease are offered to you free of charge. If results are confirmed as abnormal, a team of experts will expedite referrals to appropriate treatment centers.
In accordance with high quality standards, the examination is carried out by employing an approved method (CE-IVD) at a ISO 9001:2008- and GMP-medicine-certified partner laboratory.
The test can only be conducted after appropriate education by the pediatrician at the obstetrics department, and with your written consent.
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