Russia launched an expanded neonatal screening on January 1, 2023, which has successfully identified 219 diseases, including genetic disorders, in newborns. Over 600,000 children have undergone examinations as part of the program, as stated in a report by the Ministry of Health of the Russian Federation. 9,000 children were referred for confirmatory diagnostics.
At present, the program is being implemented by ten centers that are leading the way in ensuring comprehensive and meticulous screening for newborns. Once the newborn’s blood test detects the presence of a disease, the blood sample is subsequently sent to the Medical Genetic Research Center for a thorough analysis. Once the diagnosis is confirmed, the child receives prompt treatment, effectively preventing or postponing the occurrence of disability or premature death.
The enhanced diagnostic program has successfully detected a considerable amount of hereditary metabolic disorders, reaching a total of 109 cases. In recent times, there has been a concerning increase of 59 children being affected by primary immunodeficiency. In addition, there has been a diagnosis of spinal muscular atrophy (SMA) in 51 more children. According to the press service of the ministry, the Circle of Kindness Foundation promptly takes on the responsibility of caring for newborns diagnosed with orphan diseases through screening.
