Current Status of Newborn Screening in Southeastern Europe

Area of Science:

• Public Health
• Pediatrics
• Genetics

Background:

• Newborn screening (NBS) programs in Southeastern Europe are largely non-harmonized with developed European standards.
• An initial survey in 2013/2014 revealed significant gaps in NBS coverage and expanded testing in the region.

Purpose of the Study:

• To assess the current state of NBS programs in Southeastern Europe in 2020.
• To evaluate changes in NBS implementation since 2014.
• To identify obstacles hindering the expansion of NBS programs and wider population reach.

Main Methods:

• A survey was conducted in 2020 among 12 countries in Southeastern Europe, including new participants.
• The survey assessed the characteristics of NBS programs, including screening for phenylketonuria and congenital hypothyroidism, and the use of expanded NBS methods.
• Data from the 2020 survey were compared with results from a 2013/2014 survey.

Main Results:

• The regional NBS situation showed only modest improvement between 2014 and 2020.
• While screening for congenital hypothyroidism is now widespread, phenylketonuria screening is still absent in four of the 12 surveyed countries.
• Only Croatia and Slovenia have implemented expanded NBS programs utilizing tandem mass spectrometry.

Conclusions:

• Newborn screening programs in Southeastern Europe exhibit significant variability and remain underdeveloped in several countries.
• There is a critical need for harmonization and implementation of basic NBS services.
• Establishing an international task force is proposed to facilitate the improvement and standardization of NBS in the region.