More Than 15 Thousand Studies of Newborns for 21 Rare Diseases Have Been Conducted Since October in Ukraine

Since October Ukraine has been introducing advanced neonatal screening – a comprehensive examination of newborns to detect rare congenital and hereditary genetic diseases.

To date, more than 15 thousand studies have already been conducted on the basis of two regional neonatal screening centers – the National children's specialized hospital "Okhmatdyt" and the Lviv regional clinical perinatal center. 

The study is carried out in the first 48-72 hours of the baby's life by taking and applying a few drops of the baby’s capillary blood to a special test form. After that the test forms are sent to the laboratory center for research. If risks are identified, parents are informed about the threat for further testing to confirm or deny and prescribe treatment. 

Why is this important?

Conducting a study in the first days of a child's life allows identifying the risks of rare genetic diseases at an early stage and preventing their development in a timely manner. Thus, the child will be able to receive timely therapy, so that in the future they will not feel the manifestations of symptoms or significantly alleviate them. 

Moreover, the automation of neonatal screening processes in the electronic healthcare system allows not only to quickly exchange of data between participants in the process but also to ensure effective planning of budget purchases of medicines for the treatment of these rare diseases.

Previously in Ukraine, all newborns were tested free of charge for 4 hereditary diseases. Since October the diagnosis has been expanded to the possibility of detecting 21 orphan diseases, including cystic fibrosis, congenital hypothyroidism, spinal muscular atrophy (SMA), etc.

About the latter, recently in Ukraine for the first time a centralized purchase of the innovative drug “Eurisdi” (“Risdiplam”) for the treatment of children with spinal muscular atrophy (SMA) was made. Medicines will be available to patients free of charge in 2023. 

It should be recalled that the extended neonatal screening service is free of charge. The pilot launch of the project started in 12 regions of the country. The next step is to open regional screening centers in Kharkiv and Kryvyi Rih, which will significantly expand the geography of service coverage.