Life-Saving Test: How Early Diagnosis Changes the Fate of Newborns

Medical science possesses an exceptional tool for preventing child health – neonatal screening, which allows the identification of potential genetic deviations in the first days after birth. This research approach is a key mechanism for timely diagnosis of rare but dangerous diseases.

The history of this medical method is associated with American microbiologist Dr. Robert Guthrie, whose birth date – June 28, has become a symbolic moment for the professional community. The test he developed is an extremely precise way of examining capillary blood, which allows the detection of genetic anomalies in newborns.

In Bulgaria, the introduction of neonatal screening dates back to 1978, when scientists Prof. Kalaydzhieva and Prof. Kremenski laid the foundations of the system, initially focused on examining phenylketonuria. Subsequently, the scope of research expanded, including diagnosis of congenital hypothyroidism and adrenal hyperplasia.

Currently, screening studies are carried out in two specialized laboratories located in capital medical centers. The first – in the Specialized Hospital for Active Treatment of Children's Diseases "Prof. Ivan Mitev", focused on examining the thyroid gland and adrenal system. The second – in the Specialized Hospital of Obstetrics and Gynecology "Maichin Dom", concentrated on genetic metabolic studies.

The screening procedure includes taking capillary blood from the heel of the newborn between 48 and 120 hours after birth. The sample is applied to a special form containing the family's contact information. It is extremely important to emphasize that the initial results do not represent a final diagnosis, but an indication of possible deviations.

The Ministry of Health provides funding for diagnostic reagents, which demonstrates the state's commitment to preventive child healthcare. In the near future, the screening program is planned to be expanded with studies for cystic fibrosis, spinal muscular atrophy, and severe immune deficiencies.

When deviations are found, parents are notified of additional examinations, and there are many factors that can affect the initial results – from a contaminated sample to the newborn's adaptation problems. Confirmatory studies require precision and time.

Neonatal screening is an extremely important medical tool that provides the opportunity for early diagnosis and timely treatment, potentially saving the life and health of one in every thousand newborns.