Current Status of Newborn Screening in Southeastern Europe

Frontiers in Pediatrics

Biljana Suzic¹  Ildiko Szatmari²  Ziga Iztok Remec³  Mirjana Kocova⁴  Ksenija Fumic⁵  Maja Djordjevic⁶  Dimitrios Platis⁷  Tatjana Milenkovic⁸  Florentina Moldovanu⁹  Michaela Iuliana Nanu⁹  Ivo Baric^1,10  Alma Toromanovic^1,11  Barbka Repic Lampret^1,12  Vanesa Koracin^1,13  Mira Samardzic^1,14  Ian Brincat^1,15  Alexey Savov^1,16  Vjosa Mulliqi Kotori^1,17  Matej Mlinaric^1,18  Urh Groselj^1,19  Ana Drole Torkar^1,19  Tadej Battelino^1,19  Mojca Zerjav Tansek^1,19 

[1] Children Hospital Banja Luka, Banja Luka, Bosnia and Herzegovina;Children's Clinic, Semmelweis University, Budapest, Hungary;Clinical Institute for Special Laboratory Diagnostics, University Medical Centre Ljubljana, Ljubljana, Slovenia;Department of Endocrinology and Genetics, University Pediatric Clinic, Skopje, Macedonia;Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia;Department of Metabolism and Clinical Genetics, Institute for Mother and Child Health Care of Serbia, Belgrade, Serbia;Department of Neonatal Screening, Institute of Child Health, Athens, Greece;Department of Pediatric Endocrinology, Institute for Mother and Child Health Care of Serbia, Belgrade, Serbia;Department of Pediatrics, National Institute for Mother and Child Health, Alessandrescu-Rusescu, Bucharest, Romania;Department of Pediatrics, School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia;Department of Pediatrics, University Clinical Center, Tuzla, Bosnia and Herzegovina;Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia;Clinical Institute for Special Laboratory Diagnostics, University Medical Centre Ljubljana, Ljubljana, Slovenia;General Hospital Novo mesto, Novo mesto, Slovenia;Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro;Mater Dei Hospital, Msida, Malta;National Genetic Laboratory, University Hospital of Obstetrics and Gynecology, Medical University Sofia, Sofia, Bulgaria;Pediatric Clinic, University Clinical Center, Pristina, Kosovo;University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia;University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia;Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia;

关键词: newborn screening;    NBS;    southeastern Europe;    survey;    expanded NBS program;    neonatal screening;    dried blood sample;   

DOI  :  10.3389/fped.2021.648939

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY