In Karelia, neonatal screening helped to detect a rare disease in a newborn

Since the beginning of this year, expanded diagnosis of newborns has been actively carried out in Karelia. Doctors of the Republican Baranov Hospital in close cooperation with the perinatal center and other medical institutions analyzed more than 2.6 thousand blood samples of infants for the presence of 36 genetic pathologies.

As a result of the initial testing, 76 children were sent for an in-depth examination. In particular, 14 children were suspected of immunodeficiency, and 62 - metabolic disorders. As a result, one child confirmed adrenogenital syndrome.

The Ministry of Health of the Republic stressed that all children diagnosed with abnormalities are taken under medical supervision and provided with therapy. It is important to note that the alert system works only when pathologies are detected: if the tests are normal, parents are not additionally informed. In case of doubtful results, the family is invited to re-collect the biomaterial. It should be added that a similar diagnosis - adrenogenital syndrome - was already recorded in the region in early 2025.