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Newborns in Bulgaria are being tested for 3 rare diseases

Mar 15, 2026 08:17 53

Newborns in Bulgaria are being tested for 3 rare diseases  - 1

A mass screening of newborns in Bulgaria for three more rare diseases is expected to begin in a few days - immune deficiencies, cystic fibrosis and spinal muscular atrophy.

The screening was supposed to start a year ago, but the funds for reagents and consumables were allocated in February, BNR recalls.

The screening for rare diseases of newborns in Bulgaria is carried out by taking a drop of blood from the heel and processing the samples in two specialized laboratories - at the Maternity Home and at the Sofia Children's Hospital. Currently, babies are only tested for three diseases - phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia. Three more will be added to them, explained Minister Okoliyski:

"Mass neonatal screening, as we know, has a great chance of detecting the problem as early as possible and initiating timely treatment, which will improve the prognosis for growing up in good health and the quality of life of these children".

Next week, the logistics of the new types of tests will be prepared, and their results will be entered into the national health information system. Over 1.5 million euros have been earmarked for this screening.