Neonatal screening: results of the program

Expanded neonatal screening has been helping to detect and treat hereditary diseases in newborn Ukrainians for more than two years. This study, which is conducted in the first 48-72 hours of a child’s life, covers 21 diseases. Thanks to early diagnosis and timely treatment, it is possible to significantly alleviate the course of diseases or even completely prevent their symptoms.

The expanded neonatal screening program was launched in October 2022. This was a significant step in strengthening the child healthcare system.

Initially, the program operated in 12 regions of Ukraine, based in laboratories in Kyiv and Lviv. Since April 2023, the opening of new centers in Kharkiv and Kryvyi Rih has allowed for covering most regions of the country, except for the temporarily occupied territories.

Over the two years of the program’s operation, more than 350,000 studies have been conducted:

• Lviv center — more than 127 thousand;
• Kyiv center — more than 115 thousand;
• Kharkiv center — more than 49 thousand;
• Kryvyi Rih — more than 62 thousand.

In October 2023, the Lviv Regional Center opened a next-generation sequencing (NGS) laboratory that performs complex genetic analyses of the exome. This allows us to detect mutations in thousands of genes, including rare genetic variations.

Throughout the program, 515 cases of orphan diseases have been identified, including 51 cases of spinal muscular atrophy (SMA). Thanks to early diagnosis, treatment of SMA begins even before the onset of symptoms.

The government is actively developing a system of care for patients with rare diseases. It is planned to create a network of reference orphan centers that will provide patients with consultations, examinations, and treatment.

The Medical Procurement of Ukraine centrally ensures the supply of essential medicines using the mechanism of managed access agreements. This allows for exclusive agreements with drug manufacturers at significantly lower prices.

The expanded neonatal screening program continues to save lives and works to create a healthy future for Ukrainian children.