Two more neonatal screening centers have started operating in Ukraine - in Kharkiv and Kryvyi Rih

Since October last year, Ukraine has been conducting advanced neonatal screening of newborns — a comprehensive examination for 21 diseases in order to detect rare (orphan) genetic diseases in a timely manner.

Pilot launch of the study started in 12 regions of the country. And since 24 April 2023, the geography of the study has been expanded. From now on, the service is also available in maternity hospitals and in other regions of our country (except for the temporarily occupied territories).

This was made possible by the opening of two more neonatal screening centers — on the basis of the Interregional Specialized Medical Genetic Center – the Center of Rare (Orphan) Diseases in Kharkiv and the Inter-Regional Center for Medical Genetics and Prenatal Diagnostics named after P. M. Veropotvelian in Kryvyi Rih. Also, such laboratory centers are already working successfully in Lviv and Kyiv.

These are modern high-tech laboratories equipped with special tools, software and laboratory information systems. During the training process, medical professionals were instructed, reagents and logistics solutions were purchased, new test forms for blood sampling were purchased, and funding was provided for neonatal screening services under the medical guarantee program.

“Timely screening is not just a diagnosis, but an opportunity to detect the disease in advance at the preclinical stage, apply correction and thereby provide the child with a full life,” said Deputy Health Minister Mariia Karchevych.

The advanced neonatal screening service is available in maternity hospitals, perinatal centers, and children's hospitals with neonatology departments.

How is the study going?

• The study is carried out in the first 48-72 hours of life of infants.
• The child's parents only need to provide written consent to conduct the study.
• A medical professional will take a few drops of the baby's capillary blood and put them to special test forms.
• After that, the test forms are sent for research to the regional laboratory center.
• If the screening results are negative, i.e., no risks are detected, they are not reported to parents, but only stored in the child's electronic card and in the laboratory database.
• If risks are identified, parents will be informed about the threat for further confirmatory or refutation tests or treatment.

All stages of the study are accompanied and recorded in the electronic healthcare system: from the registration of a newborn and taking blood samples to the processing of a referral by a laboratory assistant and recording a diagnostic report based on the results of research. This allows all participants to conveniently and quickly exchange information to ensure the fastest possible response to the research result. 

Thus, a wide range of research, digitalization, and well-coordinated communication between all participants in the process allow identifying the risks of diseases in the first days of a child's life and start treatment in advance. After all, the timely use of protocol therapy and correction can completely prevent the development of the disease, completely level the symptoms of the disease or significantly ease them in order to provide the child with a full life.

The extended neonatal screening project is being embodied on the initiative of the President of Ukraine and is implemented by the Ministry of Health of Ukraine.

It should be recalled that previously in Ukraine, all newborns were tested free of charge for 4 hereditary diseases — hypothyroidism, phenylketonuria, adrenogenital syndrome, and cystic fibrosis. Since October 2022, the diagnosis has been expanded to the possibility of detecting 21 orphan diseases.  During this time, more than 50 thousand studies were conducted on two regional neonatal screening centers.