{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:36:47Z","timestamp":1792643807925,"version":"4.5.0"},"reference-count":48,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T00:00:00Z","timestamp":1696982400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Determining the scope of a newborn screening program is a challenging health policy issue. Our study aimed to explore the attitudes of specialists in pediatrics, neonatology, medical genetics, and biochemistry regarding the prospects for expanding the panel of diseases for universal newborn screening in Bulgaria. We conducted an online survey in March\u2013May 2022. The questionnaire listed 35 disorders that could potentially be included in the Bulgarian panel for universal newborn screening. If endorsing a specific condition, participants had to justify their position by judging its performance against the ten principles of Wilson and Jungner. We found a high degree of knowledge about the current universal newborn screening program in Bulgaria. An overwhelming majority (97.4%) supported the expansion of the panel to include more conditions. Four disorders obtained more than 50% approval for inclusion: cystic fibrosis (87.0%), thalassemia (72.7%), spinal muscular atrophy (65.6%), and classical galactosemia (59.1%). The perception of the condition as an important health problem was the most significant factor in this support. The costs of diagnosis and treatment appeared to be the main source of concern. We recommend country-specific economic evaluations and research on the views of other stakeholders, including the government, payers, and patient organizations, to better understand and manage the complex nature of newborn screening policymaking.<\/jats:p>","DOI":"10.3390\/ijns9040057","type":"journal-article","created":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T03:14:32Z","timestamp":1697080472000},"page":"57","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0988-0062","authenticated-orcid":false,"given":"Georgi","family":"Iskrov","sequence":"first","affiliation":[{"name":"Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"},{"name":"Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vyara","family":"Angelova","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boyan","family":"Bochev","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaska","family":"Valchinova","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodora","family":"Gencheva","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desislava","family":"Dzhuleva","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Dichev","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Nedkova","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariya","family":"Palkova","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anelia","family":"Tyutyukova","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Hristova","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0329-6081","authenticated-orcid":false,"given":"Eleonora","family":"Hristova-Atanasova","sequence":"additional","affiliation":[{"name":"Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"},{"name":"Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rumen","family":"Stefanov","sequence":"additional","affiliation":[{"name":"Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria"},{"name":"Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Sikonja, J., Groselj, U., Scarpa, M., la Marca, G., Cheillan, D., K\u00f6lker, S., Zetterstr\u00f6m, R.H., Ko\u017eich, V., Le Cam, Y., and Gumus, G. (2022). Towards Achieving Equity and Innovation in Newborn Screening across Europe. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020031"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"648939","DOI":"10.3389\/fped.2021.648939","article-title":"Current Status of Newborn Screening in Southeastern Europe","volume":"9","author":"Koracin","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Loeber, J.G. (2018). European Union Should Actively Stimulate and Harmonise Neonatal Screening Initiatives. Int. J. Neonatal Screen., 4.","DOI":"10.3390\/ijns4040032"},{"key":"ref_4","unstructured":"Wilson, J.M.G., and Jungner, G. (1968). Principles and Practice of Screening for Disease, WHO. Available online: https:\/\/apps.who.int\/iris\/handle\/10665\/37650."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"158","DOI":"10.12688\/wellcomeopenres.16057.2","article-title":"Half a Century of Wilson & Jungner: Reflections on the Governance of Population Screening","volume":"5","author":"Sturdy","year":"2020","journal-title":"Wellcome Open Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"E422","DOI":"10.1503\/cmaj.171154","article-title":"Consolidated principles for screening based on a systematic review and consensus process","volume":"190","author":"Dobrow","year":"2018","journal-title":"CMAJ"},{"key":"ref_7","unstructured":"Sagan, A., McDaid, D., Rajan, S., Farrington, J., and McKee, M. (2020). Screening: When Is It Appropriate and How Can We Get It Right?, European Observatory on Health Systems and Policies. Available online: https:\/\/apps.who.int\/iris\/handle\/10665\/330810."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/jimd.12650","article-title":"Genomic newborn screening: Are we entering a new era of screening?","volume":"46","author":"Spiekerkoetter","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Loeber, J.G., Platis, D., Zetterstr\u00f6m, R.H., Almashanu, S., Boemer, F., Bonham, J.R., Borde, P., Brincat, I., Cheillan, D., and Dekkers, E. (2021). Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010015"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"la Marca, G., Carling, R.S., Moat, S.J., Yahyaoui, R., Ranieri, E., Bonham, J.R., and Schielen, P.C.J.I. (2023). Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010015"},{"key":"ref_11","unstructured":"Ministry of Health (2023, August 22). Minister of Health\u2019s Ordinance No. 26 of June 14, 2007 on Providing Obstetric Care to Women Without Health Insurance and on Conducting Examinations and Tests Outside the Scope of Compulsory Health Insurance for Children and Pregnant Women, Available online: https:\/\/www.mh.government.bg\/media\/filer_public\/2022\/08\/31\/naredba-izmdop-naredba26-2007-akusherska-pomosht.pdf."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e34","DOI":"10.2196\/jmir.6.3.e34","article-title":"Improving the quality of Web surveys: The Checklist for Reporting Results of Internet E-Surveys (CHERRIES)","volume":"6","author":"Eysenbach","year":"2004","journal-title":"J. Med. Internet Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jcf.2016.12.012","article-title":"The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe","volume":"16","author":"Barben","year":"2017","journal-title":"J. Cyst. Fibros."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.jcf.2022.09.012","article-title":"European survey of newborn bloodspot screening for CF: Opportunity to address challenges and improve performance","volume":"22","author":"Munck","year":"2023","journal-title":"J. Cyst. Fibros."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1515\/folmed-2015-0020","article-title":"Economic Burden and Health-Related Quality of Life of Patients with Cystic Fibrosis in Bulgaria","volume":"57","author":"Iskrov","year":"2015","journal-title":"Folia Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e696","DOI":"10.1002\/mgg3.696","article-title":"Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients","volume":"7","author":"Petrova","year":"2019","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.7754\/Clin.Lab.2014.140701","article-title":"Neonatal screening for sickle cell disease and other hemoglobinopathies in \u201cthe changing Europe\u201d","volume":"60","author":"Rolla","year":"2014","journal-title":"Clin. Lab."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1136\/jmg.26.10.614","article-title":"The molecular basis of beta thalassaemia in Bulgaria","volume":"26","author":"Kalaydjieva","year":"1989","journal-title":"J. Med. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1080\/03630260701290316","article-title":"Molecular basis of beta-thalassemia and other hemoglobinopathies in Bulgaria: An update","volume":"31","author":"Petkov","year":"2007","journal-title":"Hemoglobin"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1111\/bjh.18794","article-title":"Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline: A British Society for Haematology Guideline","volume":"201","author":"Bain","year":"2023","journal-title":"Br. J. Haematol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/bjh.16188","article-title":"Antenatal screening for haemoglobinopathies: Current status, barriers and ethics","volume":"187","author":"Chakravorty","year":"2019","journal-title":"Br. J. Haematol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"556","DOI":"10.3109\/03630269.2011.607905","article-title":"Newborn screening for hemoglobin disorders","volume":"35","author":"Hoppe","year":"2011","journal-title":"Hemoglobin"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"9762","DOI":"10.1038\/s41598-022-13751-8","article-title":"Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives","volume":"12","author":"Halimeh","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e1527","DOI":"10.1212\/WNL.0000000000200986","article-title":"Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes from the First 3 Years","volume":"99","author":"Lee","year":"2022","journal-title":"Neurology"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Kimizu, T., Ida, S., Okamoto, K., Awano, H., Niba, E.T.E., Wijaya, Y.O.S., Okazaki, S., Shimomura, H., Lee, T., and Tominaga, K. (2021). Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030045"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41436-019-0673-0","article-title":"The implementation of newborn screening for spinal muscular atrophy: The Australian experience","volume":"22","author":"Kariyawasam","year":"2020","journal-title":"Genet. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.nmd.2021.03.007","article-title":"Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go","volume":"31","author":"Dangouloff","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-021-01783-8","article-title":"Newborn screening for spinal muscular atrophy in Germany: Clinical results after 2 years","volume":"16","author":"Vill","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_29","unstructured":"National Health Insurance Fund (NHIF) (2023, August 22). Database of Medicinal Products That Are Paid by NHIF. Available online: https:\/\/services.nhif.bg\/references\/lists\/medicine.xhtml."},{"key":"ref_30","unstructured":"Stoeva, I. (2011, January 9\u201311). Current status of endocrine screening programs in Bulgaria. Proceedings of the 2nd National Conference for Rare Diseases and Orphan Drugs, Plovdiv, Bulgaria."},{"key":"ref_31","unstructured":"Kremensky, I. (2006). Genetic Screening and Diagnostics. [Ph.D. Thesis, Medical University of Sofia]."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Frankov\u00e1, V., Dohnalov\u00e1, A., Pe\u0161kov\u00e1, K., Herm\u00e1nkov\u00e1, R., O\u2019driscoll, R., Je\u0161ina, P., and Ko\u017eich, V. (2019). Factors Influencing Parental Awareness about Newborn Screening. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5030035"},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Wilaiwongsathien, K., Wattanasirichaigoon, D., Rattanasiri, S., Aonnuam, C., Tangshewinsirikul, C., and Tim-Aroon, T. (2023). Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020025"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1136\/jme.2007.023374","article-title":"Information and consent for newborn screening: Practices and attitudes of service providers","volume":"34","author":"Kerruish","year":"2008","journal-title":"J. Med. Ethics"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/s41431-020-00716-6","article-title":"Regulatory landscape of providing information on newborn screening to parents across Europe","volume":"29","author":"Driscoll","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Ijzebrink, A., van Dijk, T., Frankov\u00e1, V., Loeber, G., Ko\u017eich, V., Henneman, L., and Jansen, M. (2021). Informing Parents about Newborn Screening: A European Comparison Study. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010013"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.2105\/AJPH.87.8.1280","article-title":"Public participation in medical policy-making and the status of consumer autonomy: The example of newborn-screening programs in the United States","volume":"87","author":"Hiller","year":"1997","journal-title":"Am. J. Public Health"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"53","DOI":"10.3389\/fpubh.2017.00053","article-title":"Policy Making in Newborn Screening Needs a Structured and Transparent Approach","volume":"5","author":"Jansen","year":"2017","journal-title":"Front. Public Health"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"635353","DOI":"10.3389\/fped.2021.635353","article-title":"Expanded Neonatal Bloodspot Screening Programmes: An Evaluation Framework to Discuss New Conditions with Stakeholders","volume":"9","author":"Jansen","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Octavius, G.S., Daleni, V.A., and Sagala, Y.D.S. (2023). An Insight into Indonesia\u2019s Challenges in Implementing Newborn Screening Programs and Their Future Implications. Children, 10.","DOI":"10.3390\/children10071216"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"e048031","DOI":"10.1136\/bmjopen-2020-048031","article-title":"Methods for evaluating the benefits and harms of antenatal and newborn screening programmes adopted by health economic assessments: Protocol for a systematic review","volume":"11","author":"Png","year":"2021","journal-title":"BMJ Open"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"115428","DOI":"10.1016\/j.socscimed.2022.115428","article-title":"Benefits and harms adopted by health economic assessments evaluating antenatal and newborn screening programmes in OECD countries: A systematic review of 336 articles and reports","volume":"314","author":"Png","year":"2022","journal-title":"Soc. Sci. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"865400","DOI":"10.3389\/fgene.2022.865400","article-title":"Exome\/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward","volume":"13","author":"Rahimzadeh","year":"2022","journal-title":"Front. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.jpeds.2022.10.046","article-title":"Cost-Effectiveness of Newborn Screening for Phenylketonuria and Congenital Hypothyroidism","volume":"256","author":"Appelberg","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/s41576-023-00621-w","article-title":"Genomic newborn screening for rare diseases","volume":"24","author":"Stark","year":"2023","journal-title":"Nat. Rev. Genet."},{"key":"ref_46","first-page":"681","article-title":"Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?","volume":"16","author":"Vears","year":"2023","journal-title":"Pharmacogenom. Pers. Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13073-021-00965-0","article-title":"Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases","volume":"13","author":"Chowdhury","year":"2021","journal-title":"Genome Med."},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Bick, D., Ahmed, A., Deen, D., Ferlini, A., Garnier, N., Kasperaviciute, D., Leblond, M., Pichini, A., Rendon, A., and Satija, A. (2022). Newborn Screening by Genomic Sequencing: Opportunities and Challenges. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030040"}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/9\/4\/57\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:05:10Z","timestamp":1760130310000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/9\/4\/57"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,11]]},"references-count":48,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["ijns9040057"],"URL":"https:\/\/doi.org\/10.3390\/ijns9040057","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,11]]}}}