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Newborn screening in southeastern Europe
Urh Groselj1, Mojca Zerjav Tansek1, Andraz Smon1
1University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia.
Insights
Newborn screening (NBS) for conditions like phenylketonuria and congenital hypothyroidism is lacking in many southeastern European countries. Expanding NBS programs in developing regions is a global health priority.
Area of Science:
- Public Health
- Pediatrics
- Genetics
Background:
- Newborn screening (NBS) is crucial for early detection of genetic and metabolic disorders.
- Southeastern Europe serves as a model for developing regions regarding NBS implementation.
- Assessing current NBS practices and future plans is vital for improving child health outcomes.
Purpose of the Study:
- To evaluate the current status of NBS programs in southeastern Europe.
- To identify challenges and future directions for NBS in the region.
- To advocate for the prioritization of NBS in developing countries.
Main Methods:
- A survey was conducted across 11 countries in southeastern Europe.
- Data on implemented NBS tests and future plans were collected.
- Analysis focused on the availability of phenylketonuria and congenital hypothyroidism screening.
Main Results:
- Phenylketonuria screening was absent in 4 out of 11 countries.
- Congenital hypothyroidism screening was absent in 3 out of 11 countries.
- Extended NBS programs were not established in any surveyed country.
Conclusions:
- Significant gaps exist in essential NBS programs within southeastern Europe.
- Developing countries face substantial challenges in implementing comprehensive NBS.
- Prioritizing NBS implementation globally is essential for preventing lifelong disabilities.
Abstract:
The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria screening was not introduced in four of 11 countries, while congenital hypothyroidism screening was not introduced in three of them; extended NBS programs were non-existent. The primary challenges were identified. Implementation of NBS to developing countries worldwide should be considered as a priority.
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