Current Status of Newborn Screening in Southeastern Europe

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

doi:10.3389/fped.2021.648939

Current Status of Newborn Screening in Southeastern Europe

Front Pediatr. 2021 May 7:9:648939. doi: 10.3389/fped.2021.648939. eCollection 2021.

Authors

Vanesa Koracin¹, Matej Mlinaric², Ivo Baric³, Ian Brincat⁴, Maja Djordjevic⁵, Ana Drole Torkar^{2

6}, Ksenija Fumic⁷, Mirjana Kocova⁸, Tatjana Milenkovic⁹, Florentina Moldovanu¹⁰, Vjosa Mulliqi Kotori¹¹, Michaela Iuliana Nanu¹⁰, Ziga Iztok Remec¹², Barbka Repic Lampret^{6

12}, Dimitrios Platis¹³, Alexey Savov¹⁴, Mira Samardzic¹⁵, Biljana Suzic¹⁶, Ildiko Szatmari¹⁷, Alma Toromanovic¹⁸, Mojca Zerjav Tansek^{2

6}, Tadej Battelino^{2

6}, Urh Groselj^{2

6}

Affiliations

¹ General Hospital Novo mesto, Novo mesto, Slovenia.
² University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
³ Department of Pediatrics, School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia.
⁴ Mater Dei Hospital, Msida, Malta.
⁵ Department of Metabolism and Clinical Genetics, Institute for Mother and Child Health Care of Serbia, Belgrade, Serbia.
⁶ Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
⁷ Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
⁸ Department of Endocrinology and Genetics, University Pediatric Clinic, Skopje, Macedonia.
⁹ Department of Pediatric Endocrinology, Institute for Mother and Child Health Care of Serbia, Belgrade, Serbia.
¹⁰ Department of Pediatrics, National Institute for Mother and Child Health, Alessandrescu-Rusescu, Bucharest, Romania.
¹¹ Pediatric Clinic, University Clinical Center, Pristina, Kosovo.
¹² Clinical Institute for Special Laboratory Diagnostics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
¹³ Department of Neonatal Screening, Institute of Child Health, Athens, Greece.
¹⁴ National Genetic Laboratory, University Hospital of Obstetrics and Gynecology, Medical University Sofia, Sofia, Bulgaria.
¹⁵ Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro.
¹⁶ Children Hospital Banja Luka, Banja Luka, Bosnia and Herzegovina.
¹⁷ Children's Clinic, Semmelweis University, Budapest, Hungary.
¹⁸ Department of Pediatrics, University Clinical Center, Tuzla, Bosnia and Herzegovina.

Abstract

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.

Keywords: NBS; dried blood sample; expanded NBS program; neonatal screening; newborn screening; southeastern Europe; survey.

Copyright © 2021 Koracin, Mlinaric, Baric, Brincat, Djordjevic, Drole Torkar, Fumic, Kocova, Milenkovic, Moldovanu, Mulliqi Kotori, Nanu, Remec, Repic Lampret, Platis, Savov, Samardzic, Suzic, Szatmari, Toromanovic, Zerjav Tansek, Battelino and Groselj.