Cyprus expands newborn screening: In the future, ten genetic diseases are to be detected early
Cyprus expands newborn screening: In the future, ten genetic diseases are to be detected early
Cyprus plans to significantly expand its national newborn screening by the end of 2026. In the future, infants will be examined for a total of ten genetic and congenital diseases immediately after birth. The aim is to prevent serious health consequences through diagnosis and treatment as early as possible.
The Amerikos Argyriou Center for Preventive Pediatrics announced that new test procedures for three more diseases are currently being tested and validated. These are galactosemia, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency).
Before the new tests can be rolled out nationwide, laboratories are analysing thousands of samples to establish reliable reference values for the Cypriot population and standardise the necessary clinical procedures. A pilot project is to start in the course of this year.
Expansion of the health system decided
The basis for the expansion is a decision of the Council of Ministers from 2022, which is intended to strengthen the state's preventive health system. The Ministry of Health is responsible for the national programme, while the practical implementation is carried out jointly by the Amerikos Argyriou Centre for Preventive Paediatrics and the Cyprus Institute of Neurology and Genetics.
For the modernization, the center invested more than 140,000 euros in new medical equipment and modern laboratory technology. Funding was made possible by corporate sponsors and philanthropic partnerships.
Dr. Argyris Argyriou, pediatrician and president of the center, described the expansion as a significant investment in public health. The goal is to test all newborns in the state for a total of ten diseases by the end of 2026.
Early detection can prevent
serious consequences
Medical experts point out that early diagnosis of congenital diseases is still the most effective way to prevent permanent damage to health and irreversible complications. In its current recommendations, the International Society for Neonatal Screening also emphasizes the crucial importance of detecting treatable diseases as early as possible.
More than 350,000 babies examined since 1989
The national screening program has been carried out since 1989. Since then, more than 350,000 newborns have been examined in Cyprus. As standard, all children are tested for congenital hypothyroidism and phenylketonuria (PKU).
In 2025 alone, 9,491 newborns were examined, which, according to those responsible, includes all births in the country during this period.
The results so far underline the benefits of the program: A total of 147 infants received immediate medical treatment due to early detection of congenital hypothyroidism. In addition, 19 children with hyperphenylalaninemia, three cases of classical phenylketonuria and seven milder variants of the metabolic disease were diagnosed and received early therapeutic care.
With the planned expansion, Cyprus is continuing its course of further expanding preventive medicine and early detection and sustainably improving health care for newborns.
Author: Editors
Sources: CY Ministry of Health / Press