Slovenia will expand its neonatal screening tests at the end of February to screen newborns for more than 45 different diseases, up from 20 at the moment.

The new programme should launch "on Rare Disease Day, which is on 29 February", Tadej Battelino, the head of the endocrinology, diabetes and metabolic diseases department at UKC Ljubljana medical centre, announced in a press release issued by the Health Ministry.

Until now the tests were able to recognise 20 diseases, including phenylketonuria, hyperthyroidism and several metabolic diseases. Now the tests will also screen for spinal muscular atrophy, cystic fibrosis, congenital adrenal hyperplasia and severe congenital immunodeficiencies.

There are more than 8,000 rare diseases, most of them are genetic and manifest themselves in childhood, which is why the Health Ministry has earmarked €1.9 million yearly for the expanded newborn screening programmes until 2030.

"This will be the largest national screening programme in the EU at the moment, because we will be able to discover between 45 and 50 diseases," said Battelino.

If diseases are discovered and treated before symptoms appear, some can be cured and for others the onset of symptoms can be prevented.

Nothing will change for the newborns being tested. For the test, the doctors will draw a few drops of blood from the foot or a small vein of the newborn 48 to 72 hours after birth.

Newborn screening tests began in Slovenia in the late 1970s, at first for phenylketonuria and later for hyperthyroidism. In 2019 the programme was expanded to include metabolic disorders.

The screening system is robust and highly responsive, said Battelino. An expert paediatrics college should assess the list of diseases included in the test every year to include diseases that will become curable once treatments are developed, he added.

The screenings are covered by the public health insurer ZZZS. "Every screening is economically significantly cheaper than if a child gets sick, becomes disabled or is mentally impaired," Battelino said.