More than 50 thousand studies of newborns were conducted as part of advanced neonatal screening

For the purpose of early diagnosis and timely appointment of effective treatment, a system of advanced neonatal screening of newborns has been introduced in Ukraine since October 2022. The aim of the study is a comprehensive diagnosis of rare genetic diseases in the first days of a baby's life.

During this time, more than 50 thousand studies were conducted on the basis of regional neonatal screening centers, of which more than 27 thousand by the Lviv Regional Center and about 24 thousand by the Kyiv Regional Center. These are modern high-tech laboratories equipped with special state-of-the-art equipment and laboratory information systems.

The entire screening process is monitored in the electronic healthcare system (EHCS). This allows a quick exchange of information about the study at different stages of its implementation. 

“At the next stage, we plan to expand the geography of service coverage to other regions of the country,” says Mariia Karchevych, Deputy Minister of Health for Digital Development. “Yes, we are preparing to launch a study on the basis of two more regional centers — Kharkiv and Kryvyi Rih. This will allow attracting the maximum possible number of maternity hospitals under martial law that will send samples for testing. In this way, we will be able to provide testing and, if necessary, timely treatment of babies almost all over the country.”

Previously, in Ukraine, all newborns were tested free of charge for 4 hereditary diseases. Since October 2022, diagnostics have been expanded to the possibility of detecting 21 orphan diseases. Currently, the service is available in maternity hospitals in 12 regions of the country — city of Kyiv; Vinnytsia, Volyn, Zhytomyr, Zakarpattia, Ivano-Frankivsk, Kyiv, Lviv, Rivne, Ternopil, Khmelnytskyi, and Chernivtsi oblasts.

Advanced neonatal screening will allow identifying the risks of orphan diseases in infants at an early stage and apply corrective therapy as soon as possible. After all, timely detected and timely treatment allows preventing the development of the disease and creates conditions for a long and fulfilling life of patients. 

It should be recalled that since last year, 11 medicines for the treatment of orphan diseases have been purchased, 10 of them through centralized purchases. The drug “Eurisdi” (“Risdiplam”) for the treatment of children with spinal muscular atrophy (SMA) was purchased for the first time. Two children who were diagnosed with SMA as part of the extended screening have already received treatment with an innovative drug purchased from the state budget under the mechanism of managed access contracts.