The Ministry of Health of Russia reported that since the beginning of 2023, more than 95,000 children have been tested as part of the country’s expanded neonatal screening program, and about 1,000 were found to be at risk of hereditary diseases. “More than 95,000 children were examined as part of the expanded neonatal screening, which started on January 1, 2023. According to the results of the study, about 1,000 newborns are found to be as at risk of hereditary diseases. These children are to undergo further tests for a confirmatory diagnosis,” the report says.
13 infants were found to have congenital and hereditary diseases. Additional testing confirmed spinal muscular atrophy (SMA) in two children, primary immunodeficiency in four, and hereditary metabolic diseases in seven.
The press service recalled that the first child who was diagnosed with an orphan disease as part of the expanded neonatal screening was a girl born on January 1 in Kurgan. According to the results of a blood test conducted in Yekaterinburg, she was included in the risk group for spinal muscular atrophy.
After the diagnosis was confirmed, telemedicine consultations were held with doctors from specialized centers, including geneticists, as well as a medical consultation to determine treatment tactics. Medical documents and the decision of the medical commission were transferred to the Circle of Kindness Foundation, which is going to provide the child with the necessary high-cost medicines.