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State of the Art Cranial Ultrasound Imaging in Neonates
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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.

Molecular Genetics and Metabolism
|September 2, 2014
PubMed
Summary

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.

Keywords:
Newborn screeningSoutheastern EuropeSurvey

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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.