Frontiers in Pediatrics (May 2021)

Current Status of Newborn Screening in Southeastern Europe

  • Vanesa Koracin,
  • Matej Mlinaric,
  • Ivo Baric,
  • Ian Brincat,
  • Maja Djordjevic,
  • Ana Drole Torkar,
  • Ana Drole Torkar,
  • Ksenija Fumic,
  • Mirjana Kocova,
  • Tatjana Milenkovic,
  • Florentina Moldovanu,
  • Vjosa Mulliqi Kotori,
  • Michaela Iuliana Nanu,
  • Ziga Iztok Remec,
  • Barbka Repic Lampret,
  • Barbka Repic Lampret,
  • Dimitrios Platis,
  • Alexey Savov,
  • Mira Samardzic,
  • Biljana Suzic,
  • Ildiko Szatmari,
  • Alma Toromanovic,
  • Mojca Zerjav Tansek,
  • Mojca Zerjav Tansek,
  • Tadej Battelino,
  • Tadej Battelino,
  • Urh Groselj,
  • Urh Groselj

DOI
https://doi.org/10.3389/fped.2021.648939
Journal volume & issue
Vol. 9

Abstract

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Significant part of Southeastern Europe (with a population of 76 million) has newborn screening (NBS) programs non-harmonized with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region (Albania, Bulgaria, Bosnia and Herzegovina (BIH), Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, and Slovenia) to assess the main characteristics of their NBS programs and their future plans. Their cumulative population at that time was ~52,5 million. At that time, none of the countries had an expanded NBS program, while phenylketonuria screening was not introduced in four and congenital hypothyroidism in three of 11 countries. We repeated the survey in 2020 inviting the same 11 countries, adding Cyprus, Greece, Hungary, and Malta (due to their geographical position in the wider region). The aims were to assess the current state, to evaluate the change in the period, and to identify the main obstacles impacting the implementation of expanded NBS and/or reaching a wider population. Responses were collected from 12 countries (BIH—Federation of BIH, BIH—Republic of Srpska, Bulgaria, Croatia, Greece, Hungary, Kosovo, North Macedonia, Malta, Montenegro, Romania, Serbia, Slovenia) with a population of 68.5 million. The results of the survey showed that the regional situation regarding NBS only modestly improved in this period. All of the surveyed countries except Kosovo screened for at least congenital hypothyroidism, while phenylketonuria was not screened in four of 12 countries. Croatia and Slovenia implemented an expanded NBS program using tandem mass spectrometry from the time of last survey. In conclusion, the current status of NBS programs in Southeastern Europe is very variable and is still underdeveloped (or even non-existent) in some of the countries. We suggest establishing an international task-force to assist with implementation and harmonization of basic NBS services where needed.

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