Ljubljana – Slovenia is one of the leading European countries regarding newborn screening, experts said at a recent press conference ahead of today’s International Neonatal Screening Day, and stressed the importance of early detection of diseases.
Early testing is key in disease diagnosis in children and youth, said the experts, especially if treatment starts early. It gives patients the opportunity to lead a completely normal life.
Participating in last week’s conference, titled What Does a Blood Drop Hold?, paediatrician Tadej Battelino said that Slovenia’s well-established newborn screening was something to be proud of as each person with health insurance is entitled to it.
“We have been praised in medical journals for having one of the most highly developed newborn screening programmes in the EU and worldwide.”
Damjan Osredkar, neurology specialist, said that studies had shown a significantly higher life expectancy in children who have undergone such screenings, compared to a few years ago when toddlers before the age of two died from undiagnosed diseases.
Carrying out such tests in Slovenia is the Clinical Institute for Specialised Laboratory Diagnostics at the UKC Ljubljana hospital with a total of some 250,000 tests per year, 20,000 of which are newborn screenings.
The Ljubljana Paediatric Clinic has also established a neuromuscular disease registry and put together a specialist team devoted to treating such diseases in children. The two-day screening period includes testing on a single blood sample, Osredkar said, adding that this had greatly improved the entire treatment.
“We will continue our efforts to screen newborns for all diseases for which there are drugs that significantly alter the natural course of the disease,” he said, hopeful that the Centre for Cell and Gene Therapy will be established in Slovenia to bring together experts from various fields.
Parents in Slovenia have a very ethical attitude towards newborn screening, Battelino said. If parents are to decline such a test, they have to sign a waiver, but such cases are very rare, perhaps one a year, he added.