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Over 95,000 newborns have undergone neonatal screening: Ministry of Health of Russia
Out of the newborns tested, approximately 1,000 have been found to be at risk of hereditary diseases.
According to the Russian Ministry of Health, more than 95,000 children have been tested as part of the country's expanded neonatal screening programme since the beginning of 2023. Out of the newborns tested, approximately 1,000 have been found to be at risk of hereditary diseases. These children will be additionally testes confirm their diagnosis, according to the report.
Additional testing revealed congenital and hereditary diseases in 13 infants. Two children had spinal muscular atrophy (SMA), four had primary immunodeficiency, and seven had hereditary metabolic diseases.
According to the results of a blood test in Yekaterinburg, the first child diagnosed with an orphan disease as part of the expanded neonatal screening was a girl born on January 1st in Kurgan. Following the confirmation of the diagnosis, telemedicine consultations with doctors from specialised centres, including geneticists, were adopted along with medical consultation to determine the treatment strategies. Furthermore, medical records and the medical commission's decision were transferred to the Circle of Kindness Foundation, which will provide the child with the necessary high-cost medications.