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Baby-Check PLUS: Early detection of hereditary diseases in newborns

THE LATEST IN RESEARCH AND SCREENING METHODS FOR YOUR BABY!

As part of a newborn screening, a few drops of blood taken from a tiny puncture in your baby's heel are subsequently analyzed in the laboratory. The blood is being tested for a number of hereditary diseases where treatment is possible and consequential damage can be avoided by beginning treatment at an early stage.

In Austria there has been a successful screening program for more than 50 years, which is among the most extensive in Europe. Currently, babies' blood is screened for two hormonal disorders, 31 metabolic diseases as well as Cystic Fibrosis (CF). A form of these diseases is found in one out of every 800 newborns.

New medical findings also open up ever new possibilities – both in early detection of other rare hereditary problems and in their treatment.

We are truly delighted to be able to offer you and your child – in addition to the general Austrian screening – a new innovative exam at Döbling Private Hospital: the "Baby-Check PLUS", the first test aimed specifically at immunodeficiencies and lysosomal storage diseases.

EXTENDED NEWBORN SCREENING AT DÖBLING PRIVATE HOSPITAL

During the course of Baby-Check PLUS we screen for the following rare diseases, in which treatment is possible and early detection represents a significant benefit for those concerned.

Immunodeficiencies:
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. We screen 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.

WHY YOU SHOULD HAVE YOUR NEWBORN SCREENED

Although the aforementioned diseases are rare, afflicting one in every 3000 newborns, early detection immediately after birth is crucial for the further course of the disease should the situation arise. With immunodeficiencies the immediate start of treatment can be life-saving – a cure through stem cell transplantation is often possible. Lysosomal storage diseases often go undetected for months or years. With early detection, however, along with appropriate exams and depending on the disease, enzyme replacement therapy or bone marrow transplantation can be contemplated at an early stage.

NECESSARY INFORMATION

  • 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 our 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 Baby-Check PLUS is a non-binding offer for the price of € 362.–. The test can only be conducted after appropriate education by the pediatrician at the obstetrics department, and with your written consent.
  • If you have any questions about hereditary diseases in your family, ideally inquiring during pregnancy, you are welcome to contact our Medical Genetics expert Berthold Streubel, MD Univ-Prof at Döbling Private Hospital's Doctor's Office Center.