Earlier Diagnosis for Babies: Ministry of Health Expands Neonatal Screening

The Ministry of Health is embarking on a new stage in the development of neonatal screening in Bulgaria, aiming for the earlier detection of rare but severe diseases in the first days after birth. This was reported by the department, emphasizing that timely diagnosis is key to effective treatment and the prevention of serious disabilities.

By order of the Minister of Health, a specialized working group has been established, including leading medical experts, national consultants, and administrative representatives. Their task is to prepare specific proposals for expanding the scope of screening by analyzing more than 30 metabolic diseases, known as inborn errors of metabolism.

These diseases are hereditary and are caused by the absence or impaired function of certain enzymes, which prevents the body from properly breaking down or utilizing nutrients. In many cases, newborns appear completely healthy at birth, but without a timely diagnosis, the condition can lead to severe damage to the nervous system, internal organs, or life-threatening complications. For a significant portion of these diseases, effective treatment exists—through a special diet or drug therapy.

Neonatal screening involves testing all newborns by taking a few drops of blood from the baby’s heel, usually between the 48th and 96th hour after birth. The sample is analyzed in specialized laboratories using highly sensitive methods. The test does not provide a final diagnosis but identifies children at increased risk, for whom additional confirmatory tests are performed.

The Ministry specifies that the expansion of screening will be implemented in stages, in accordance with the development of laboratory capacity, diagnostic algorithms, and the possibilities for follow-up treatment and monitoring.

With this initiative, the health department follows a policy of building a sustainable and evidence-based system for early diagnosis, aligned with modern medical standards. The expectations are that this will lead to a better quality of life for affected children and their families through the timely detection and treatment of diseases.