As part of the expanded neonatal screening, which started on January 1, a child was diagnosed with spinal muscular atrophy (SMA). This was reported in the press service of the Ministry of Health of Russia.
“The girl was born on January 1, 2023 in a maternity hospital in Kurgan. Within 24 hours after birth, she had her blood collected for neonatal screening and extended neonatal screening. According to the results of the blood sample test conducted in Yekaterinburg, the child was included in the risk group for SMA, and Academician N. P. Bochkov Research Centre for Medical Genetics (MGRC) was asked to provide a confirmatory diagnosis. At the moment, the diagnosis has been confirmed, and specialized centers experts, including geneticists, have provided telemedicine consultations,” the message says.
The child has already undergone additional examinations, and telemedicine consultations with specialists from federal centers have been provided, 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.
Expanded neonatal screening for more than 40 rare diseases started on January 1, 2023. To date, more than 42,000 samples taken from newborns as part of neonatal screening have been delivered for diagnosis, of which 80 samples have been sent to Moscow for confirmatory diagnosis.
As it became known in December 2022, expanded neonatal screening in Russia will be provided by 10 clinics.