The participant of the Eurasian REC - Republican Medical and Genetic Center has started expanded neonatal screening in the Volga Federal District

The Republic of Bashkortostan has become one of the ten interregional centers where infants will be examined for congenital diseases. Early detection of pathologies will create a basis for timely pathogenetic treatment of patients, experts say. It will also increase the effectiveness of medical and genetic counseling of the family in terms of timely diagnosis and prevention of the re-birth of a sick child.

In order to implement the expanded neonatal screening (RNS) program in the Russian Federation, a list of medical organizations has been identified in which studies will be conducted for children from all regions of the country.

This list includes 11 state institutions. For the Volga Federal District, the most optimal option was the participant of the world–class Eurasian REC - the Republican Medical and Genetic Center, which meets the stated criteria.

- Biomaterials from both maternity hospitals of the republic and 151 institutions of the Volga Federal District will be sent to Bashkiria for research within the framework of the RNS:

Perm Krai and the Republic of Mari El, as well as Orenburg, Ulyanovsk, Samara, Saratov regions. On the basis of our center, highly qualified specialists work who can help these regions in the future in terms of interpreting the results, managing these children. We also have a perfect technological base: there are 4 laboratories operating on the basis of the RMGC: laboratories of perinatal neonatal selective screening, molecular genetic, clinical diagnostic and cytogenetic laboratories," said Fanil Bilalov, chief freelance specialist in clinical laboratory diagnostics of the Ministry of Health of Bashkiria, chief physician of the Republican Medical and Genetic Center.

Previously, children were tested for 5 diseases - phenylketonuria, congenital hypothyroidism, congenital dysfunction of the adrenal cortex, galactosemia and cystic fibrosis.

Since January 2023, biomaterials have been studied for 36 diseases, one of them is spinal muscular atrophy.

"Such studies have been conducted in European countries for several years. In Russia, we joined this process a little later, but unlike other countries, we are trying to fully cover all newborns in this large-scale project. We are not lagging behind our foreign colleagues, we are keeping pace: the diagnosis of 36 diseases is a step forward, since there are still other varieties inside them, up to 160 conditions can be detected," Fanil Bilalov stressed.

Establishing an accurate diagnosis before the first symptoms appear is extremely important for the successful treatment and prevention of irreversible complications and deaths in children, reducing disability and ensuring a good quality of life. After all, if the disease is not detected early, it subsequently leads to severe developmental disorders, mental retardation and even death of the child.

Early detection of hereditary and congenital diseases will not only create the basis for timely pathogenetic treatment of patients, but also increase the effectiveness of medical and genetic counseling of the family in order to diagnose pathology and prevent the re-birth of sick children.