By order of the caretaker Minister of Health, Mihail Okoliyski, a working group is being created to prepare proposals for the expansion of neonatal screening, the health ministry announced. The Ministry of Health (MoH) is undertaking a new stage in the development of neonatal screening in Bulgaria, and the main goal is to ensure earlier detection of rare but severe diseases, in the first days after birth, when treatment is most effective and can prevent serious impairments, the announcement states.
“In implementation of the priorities for improving maternal and child healthcare, a specialized working group has been established by order of the Minister of Health. Leading medical experts, national consultants, and representatives of the administration are included in it. Their task is to prepare specific proposals for expanding screening through analysis for over 30 metabolic diseases, the so-called congenital errors of metabolism,” the information also states. In many cases, newborns appear perfectly healthy at birth, but without timely diagnosis, the disease can lead to severe damage to the nervous system, internal organs, or life-threatening conditions. In many of them, there is effective treatment, most often through a special diet or medication therapy, the MoH explained.
Neonatal screening is an examination of all newborns, which is performed by taking a few drops of blood from the baby's heel, usually between the 48th and 96th hour after birth, the announcement states. The blood is applied to a special filter paper and examined in specialized laboratories with highly sensitive methods. Screening does not provide a definitive diagnosis, but identifies children at increased risk, who undergo additional confirmatory tests.
The expansion of screening will be carried out in stages and in close connection with the development of laboratory capacity, diagnostic algorithms, and treatment and follow-up opportunities.
“With this approach, the MoH follows a clear and consistent policy towards building a sustainable, effective, and scientifically based system for early diagnosis, in accordance with modern medical standards and technological possibilities. In this way, a real health result will be achieved by ensuring a better quality of life for the affected children and their families,” the press release states.
Screening programs are extremely important for early diagnosis and the effectiveness of treatment, said Prof. Ivaylo Tarnev, head of the Clinic of Nervous Diseases at Alexandrovska University Hospital, during the 13th National Health Forum at the beginning of April. According to him, about 85% of rare diseases are genetic. He added that there is no official statistics on patients with rare diseases.
/RI/