45 years of neonatal screening at the MedUni Vienna

(6th May 2011) The University Department for Paediatric and Adolescent Medicine of the MedUni Vienna has been running one of Europe’s most extensive neonatal screening programmes for 45 years. Currently samples from more than 78,000 newborns from all over Austria are examined in Vienna each year. The test for congenital metabolic diseases and hormonal disorders shortly after birth is part of the Mother-Child Booklet and allows for targeted treatments at an early stage. To date the programme has saved thousands of children from lives coping with disabilities and severe diseases.

Alois Stöger, Federal Minister for Health, and Wolfgang Schütz, Vice-Chancellor of the MedUni Vienna, gave a presentation, together with Arnold Pollak, Director of the University Department for Paediatric and Adolescent Medicine and experts in neonatal screening, David Kasper and Kurt Herkner, on the 45-year success story of the internationally highly-respected Austrian screening programme for the early detection of congenital metabolic disorders in newborns.

“The health of every child in Austria is important to me. That is why I have initiated the Children’s Health Dialogue. Here experts and those affected discuss possibilities for improvement in the health of our children”, remarked Minister Stöger, who then added, “With the Mother-Child Booklet it is possible to provide screening examinations to every child in the whole of Austria. The neonatal screening is a worldwide unique programme for the early detection of metabolic disorders, which when detected early, can also be treated more easily."

The Vice-Chancellor of MedUni, Wolfgang Schütz, states on the formation and development of one of Europe’s most extensive neonatal screening programmes, “With its origins in a research project undertaken by the MedUni Vienna in the 1960s, neonatal screening started being routinely undertaken in the whole of Austria by the MedUni Vienna in 1966 when commissioned by the Ministry of Health. The programme has been and shall be continuously improved and developed further in accordance with the respective current level of scientific research. Internationally the MedUni Vienna has taken pole position with its neonatal screening.“

Rapid diagnosis protects newborns from severe diseases and permanent injury
Austrian neonatal screening pursues the target of detecting and diagnosing congenital metabolic diseases and endocrine, therefore hormonal disorders in every infant born in Austria. In doing so the children affected can be effectively treated at the earliest possible time.

After all one in 800 newborns is affected by such a congenital disease; the dangerous consequences of which can range from severe diseases and permanent injury and even to death. By using neonatal screening currently between 110 and 130 babies each year, and a total of more than 2,400 children to date, have their problems in metabolic or hormone balance detected at the opportune time and even before these defects bring about organic injury. The number of infant patients, in whom a dangerous congenital disease can be diagnosed, continuously increased during the past decade as a result of new scientific findings and possibilities of diagnosis.

Prior to the introduction of the screening programme these diseases would generally not have been detected early enough. Children affected frequently died at an early age or had to live with severe impairments to their health. By means of a small prick in the child’s heel and some drops of blood obtained by this, these hereditary disorders can today be rapidly diagnosed and early treatment measures can be implemented. With regard to metabolic diseases severe secondary injuries may be effectively prevented, for example through the comparatively simple method of an individual diet alone. One example of this is phenylketonuria. This disease was the reason for the programme’s introduction in the 1960s.

Pole position worldwide in diagnosis, treatment and research
A ground-breaking research project of the MedUni Vienna was at the origins of Austrian neonatal screening. Due to its great success the programme was rapidly established throughout Austria on behalf of the Ministry of Health.

Today neonatal screening at the MedUni Vienna is enshrined in Austrian health policy and is simultaneously an internationally distinguished research centre. The reason for this are the outstanding requirements of the MedUni Vienna in terms of its staff and technology as well as good networking with the Austrian centres for metabolic disorders and outpatient departments for rare diseases. In doing so interdisciplinary cooperation takes place between occupation groups such as midwives, doctors and dietologists with differently specialised laboratories.

This environment promotes the ongoing further development of neonatal screening: innovative technologies, new findings in terms of treatment management and long-term studies into the processes are constantly being incorporated. Important improvements are also based on the University Department for Paediatric and Adolescent Medicine’s own research findings. That guarantees continuous improvement in preventive diagnosis and the treatment of patients with rare congenital diseases.

Scientists from the MedUni Vienna are currently researching new innovative technologies together with their international cooperation partners from the USA and with German colleagues. One major project is the development of new procedures in the determination of enzyme activities in lysosomal accumulation diseases. The MedUni Vienna is now the lead worldwide in the early detection of a multitude of these diseases and is a hub for laboratories and doctors from all over the world. The Ministry of Health supported the pilot project with the provision of 620,000 Euros over the period of three years.

The formation of neonatal screening and its ongoing further development
As one of the first such programmes worldwide, neonatal screening for the detection of congenital metabolic diseases and endocrinopathies was introduced throughout Austria in 1966. It was developed on behalf of the Federal Ministry of Health at Medical University of Vienna’s University Department for Paediatric and Adolescent Medicine.

The list of the diseases being examined was successively expanded in subsequent years and soon encompassed in addition to phenylketonuria and galactosaemia, also congenital primary hypothyroidism, biotinidase deficiency, cystic fibrosis and adrenogenital syndrome. A new ground-breaking technology, tandem mass spectrometry (a process to measure the mass of atoms or molecules), was introduced in 2002. As a result it was also possible to diagnose a range of further diseases early after birth, which had often previously remained undetected. Through this measure the number of examined congenital metabolic diseases was able to be expanded to more than 30 diseases and now also comprises amino acid and fatty acid oxidation disorders as well as organic acidopathies.