The First 50 Patients Suspected of Hereditary Diseases Were Identified During Extended Neonatal Screening
The Research Centre for Medical Genetics is a reference center for extended neonatal screening, which has been held in Russia since January 1, 2023. RCMG not only performs confirmatory diagnostics (studies to identify patients with hereditary pathology among newborns examined at one of the 10 Extended Neonatal Screening Centres and with high risk of developing the disease) but also provides organizational and methodical guidance to medical institutions of all subjects of the Russian Federation on conducting mass neonatal screening for hereditary diseases.
As of the end of March 2023, more than 3,000 samples of high-risk newborns' biomaterials had been received by RCMG from all federal districts of the Russian Federation (for the purpose of confirming the diagnosis of hereditary diseases). Already in 50 of them were identified pathologies of the immune and nervous system, metabolic disorders, including 19 children with confirmed diagnosis of spinal muscular atrophy.
The largest number of newborns with spinal muscular atrophy was found in 4 regions:
- Moscovskaya Oblast (3 patients)
- Belgorodskaya Oblast (2 patients)
- Samarskaya Oblast (2 patients)
- Sverdlovskaya Oblast (2 patients)
“According to the statistics, spinal muscular atrophy occurs with a frequency of 1 case per 7-8 thousand newborns, but this is the average frequency for the whole country. We draw attention to the fact that among children born in such a city with a large number of newborns as Moscow, during the first months of extended neonatal screening in the reference centre has not been confirmed diagnosis of SMA in any child. While in two regions with a small number of newborns - Belgorodskaya and Samarskaya Oblasts - the diagnosis has already been confirmed in two newborns for each. Parents and legal representatives of newborns should be very easily explained that the screening does not end at the initial blood sampling of the child in the maternity hospital. Children at risk as a result of the first study should be given a comprehensive examination as soon as possible at the confirmation stage of diagnosis in RCMG. This requires, for example, that the medical institution has the most accurate information on the place of stay of children after discharge from the maternity hospital. Specialists should be able to contact parents (legal representatives) promptly and invite them with the child for additional examinations and consultations - in some cases not only health, but also the life of the patient depends on it”, - said Sergey Voronin, chief physician of the Research Centre for Medical Genetics.