A Baby’s First Health Test: More Than 608,000 Newborn Screening Tests Conducted in Ukraine

A few drops of blood from a newborn’s heel can help detect a rare disease before the first symptoms appear. This is the purpose of expanded newborn screening in Ukraine — testing for 21 rare inherited and congenital diseases.

As of August 2026, 608,082 newborn screening tests have been conducted in Ukraine as part of the expanded newborn screening programme.

The results showed that:

• 4,924 cases required further testing;
• pathology was confirmed in 1,170 cases after follow-up testing;
• among the confirmed cases were 84 cases of spinal muscular atrophy (SMA).

Why is early detection important?

Many rare diseases may not cause noticeable symptoms at first. At the same time, early diagnosis is critical: timely confirmation of a disease allows doctors to start the necessary treatment as soon as possible and prevent severe complications.

This is why newborn screening is performed during the first days of a baby’s life.

How is newborn screening performed?

At 48–72 hours of life, a healthcare professional collects a few drops of capillary blood from the baby’s heel and places them on a special screening card.

The sample is then sent to a regional newborn screening centre, where the necessary laboratory tests are performed.

Testing is carried out at four regional newborn screening centres:

• Lviv Regional Centre — 211,322 tests;
• Kyiv Regional Centre — 195,314;
• Kryvyi Rih Regional Centre — 112,717;
• Kharkiv Regional Centre — 88,729.

Parents must provide written consent for the screening.

The service is free of charge for families and is guaranteed under Ukraine’s Programme of Medical Guarantees as part of childbirth care provided in maternity hospitals, perinatal centres and children’s hospitals with neonatal units.

Screening is only the first step. At the same time, Ukraine is developing a comprehensive care pathway for children with rare diseases — from early detection and diagnosis to treatment. A network of rare disease centres is being developed, where parents can receive qualified medical support if a diagnosis is confirmed.

The procurement of medicines and medical products for patients with rare diseases also remains an important priority.

In 2025 alone, as part of centralised procurement, the state enterprise Medical Procurement of Ukraine purchased more than 100 types of medicines and medical products worth more than UAH 3.8 billion for patients with rare (orphan) diseases. The procurement covered 11 areas of treatment, diagnosis and prevention.

Of this amount, innovative medicines worth more than UAH 1.2 billion were purchased under Managed Entry Agreements (MEAs). These included medicines for Fabry disease, Gaucher disease, mucopolysaccharidoses, type 1 spinal muscular atrophy, primary immunodeficiencies, juvenile idiopathic arthritis and haemophilia.

How can parents find out the screening result?

A screening result does not always mean that parents need to wait for a healthcare professional to contact them.

If no risk is detected, parents are not contacted separately about the result. It is stored in the child’s electronic medical record in the Electronic Health Care System.

If the result is inconclusive, parents may be asked to provide another blood sample for repeat testing. Importantly, the need for repeat testing does not mean that the child has been diagnosed with a disease.

If the screening confirms a pathology, doctors from a medical and genetic centre will contact the family and coordinate further care.

Parents can also contact their paediatrician or family doctor with whom they have signed a declaration for their child. The doctor has access to the child’s electronic medical records in the Electronic Health Care System and can view the newborn screening result.