Bulgaria is moving from a very limited newborn screening panel toward a broader program including screening for SMA
In Bulgaria, newborn screening is currently limited to three rare diseases: phenylketonuria, congenital hypothyroidism, and congenital adrenal hyperplasia.
The government plans to expand screening to include three additional conditions: spinal muscular atrophy (SMA), cystic fibrosis, and immune deficiencies. The start of the screening for these additional diseases is expected to begin in a few days.
The rollout was delayed by about a year due to funding issues, but has now received over €1.5 million for implementation.
Screening is done via a heel-prick blood test, analyzed in specialized laboratories.
The goal is earlier diagnosis and treatment, which can significantly improve health outcomes and quality of life for affected children.
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