{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:17:33Z","timestamp":1790709453934,"version":"4.1.0"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T00:00:00Z","timestamp":1781049600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Newborn screening (NBS) is a crucial public health initiative designed to detect genetic, metabolic, and endocrine disorders in infants before clinical symptoms appear. Early detection enables timely intervention, reducing morbidity and mortality associated with congenital diseases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aimed to determine the prevalence of common disorders detected through newborn screening among the United Arab Emirates (UAE) population from year 2021 to 2023.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective cross-sectional study was conducted using newborn screening data collected from the National Reference Laboratory (NRL), representing samples from 20 hospitals and laboratories across Abu Dhabi, Dubai, Sharjah, and Fujairah. Screening tests included hemoglobinopathies, aminoacidopathies, acylcarnitine disorders, cystic fibrosis, glucose-6-phosphate dehydrogenase (G6PD) deficiency, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), biotinidase deficiency, and galactose-1-phosphate uridylyltransferase (GALT) deficiency. Prevalence was calculated per 100,000 screened newborns using SPSS, excluding inconclusive and false-positive cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 29,290 newborns screened, 2,191 (7.4%) were positive for one or more disorders, and 698 (2.3%) were identified as hemoglobinopathy carriers. The highest prevalence was observed for G6PD deficiency (5,278 per 100,000 screened newborns), followed by cystic fibrosis (566 per 100,000 screened newborns), acylcarnitine disorders (518 per 100,000 screened newborns), and aminoacidopathies (505 per 100,000 screened newborns). Endocrine disorders, including CAH (160 per 100,000 screened newborns) and CH (116 per 100,000 screened newborns), were also detected. Hemoglobinopathies, particularly alpha-thalassemia and sickle cell anemia, represented the most common inherited blood disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The findings highlight a significant burden of G6PD deficiency and other metabolic disorders among newborns in the UAE. The study underscores the importance of continuous monitoring, expanded screening panels, and genetic counseling for carrier detection to improve neonatal outcomes and guide public health strategies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1788876","type":"journal-article","created":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T06:21:06Z","timestamp":1781072466000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population"],"prefix":"10.3389","volume":"14","author":[{"given":"Khadija","family":"Shafique","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomics, UAE University (UAEU)","place":["Al Ain, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afsheen","family":"Raza","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, College of Health Sciences, Abu Dhabi University","place":["Abu Dhabi, United Arab Emirates"]},{"name":"Cancer Research Institute, Office of Research and Sponsored Programs, Abu Dhabi University","place":["Abu Dhabi, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariba","family":"Naushad","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, College of Health Sciences, Abu Dhabi University","place":["Abu Dhabi, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fathima","family":"Hussain","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, College of Health Sciences, Abu Dhabi University","place":["Abu Dhabi, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duaa","family":"Walid","sequence":"additional","affiliation":[{"name":"Genetics and Rare Disease Center, Burjeel Medical City","place":["Abu Dhabi, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila","family":"Wareth","sequence":"additional","affiliation":[{"name":"National Reference Laboratory, M42","place":["Abu Dhabi, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayman W.","family":"El-Hattab","sequence":"additional","affiliation":[{"name":"Genetics and Rare Disease Center, Burjeel Medical City","place":["Abu Dhabi, United Arab Emirates"]},{"name":"Department of Medical Sciences, College of Medical and Health Sciences, Khalifa University","place":["Abu Dhabi, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rania Nabil","family":"Bedair","sequence":"additional","affiliation":[{"name":"National Reference Laboratory, M42","place":["Abu Dhabi, United Arab Emirates"]},{"name":"Medical Research Institute, Alexandria University","place":["Alexandria, Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rania","family":"Al Dweik","sequence":"additional","affiliation":[{"name":"Department of Public Health, College of Health Sciences, Abu Dhabi University","place":["Abu Dhabi, United Arab Emirates"]},{"name":"Sky Health Pharma","place":["Abu Dhabi, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najwane Said","family":"Sadier","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, College of Health Sciences, Abu Dhabi University","place":["Abu Dhabi, United Arab Emirates"]},{"name":"Neuroscience Research Center, Faculty of Medical Sciences, Lebanese University","place":["Beirut, Lebanon"]},{"name":"Deparment of Public Health, Dubai Health Authority","place":["Dubai, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,10]]},"reference":[{"key":"B1","article-title":"Newborn screening","volume-title":"StatPearls","author":"Dubay","year":"2022"},{"key":"B2","article-title":"Congenital adrenal hyperplasia: diagnosis and emergency treatment","volume-title":"Endotext","author":"Yau","year":"2000"},{"key":"B3","first-page":"57","article-title":"Newborn screening","volume":"31","author":"Pitt","year":"2010","journal-title":"The Clinical Biochemist. Reviews"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.3390\/medicina58020272","article-title":"Insights into national laboratory newborn screening and future prospects","volume":"58","author":"Mujamammi","year":"2022","journal-title":"Medicina (Kaunas, Lithuania)"},{"key":"B5","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1053\/j.semperi.2015.03.002","article-title":"Current status of newborn screening worldwide: 2015","volume":"39","author":"Therrell","year":"2015","journal-title":"Semin Perinatol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"2225","DOI":"10.4102\/ajlm.v12i1.2225","article-title":"Bridging the gaps in newborn screening programmes: challenges and opportunities to detect haemoglobinopathies in Africa","volume":"12","author":"Twum","year":"2023","journal-title":"Afr J Lab Med"},{"key":"B7","doi-asserted-by":"publisher","first-page":"17","DOI":"10.26719\/2014.20.1.17","article-title":"Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011","volume":"20","author":"A Hosani","year":"2014","journal-title":"Eastern Mediterranean Health Journal"},{"key":"B8","author":"Cellucci","year":"2022"},{"key":"B9","year":""},{"key":"B10","volume-title":"Genetic Testing Market","author":"Babar","year":"2023"},{"key":"B11","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1017\/s0021932097004914","article-title":"Consanguineous marriages in the United Arab Emirates","volume":"29","author":"Al-Gazali","year":"1997","journal-title":"J Biosoc Sci"},{"key":"B12","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1002\/bdr2.1653","article-title":"Mandatory newborn screening in the United States: history, current status, and existential challenges","volume":"112","author":"McCandless","year":"2020","journal-title":"Birth Defects Research"},{"key":"B13","year":""},{"key":"B14","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1038\/gim.2012.76","article-title":"Birth prevalence of disorders detectable through newborn screening by race\/ethnicity","volume":"14","author":"Feuchtbaum","year":"2012","journal-title":"Genet Med"},{"key":"B15","doi-asserted-by":"publisher","first-page":"233","DOI":"10.3785\/j.issn.1008-9292.2017.06.02","article-title":"[Screening for amino acid metabolic disorders of newborns in zhejiang province:prevalence, outcome and follow-up]","volume":"46","author":"Huang","year":"2017","journal-title":"Zhejiang Da Xue Xue Bao Yi Xue Ban"},{"key":"B16","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.ymgme.2013.07.006","article-title":"Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the kingdom of Bahrain","volume":"110","author":"Golbahar","year":"2013","journal-title":"Mol Genet Metab"},{"key":"B17","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1007\/8904_2015_512","article-title":"Inborn errors of metabolism in the United Arab Emirates: disorders detected by newborn screening (2011-2014)","volume":"28","author":"Al-Jasmi","year":"2016","journal-title":"JIMD Rep"},{"key":"B18","first-page":"690","article-title":"The national congenital anomalies register in the United Arab Emirates","volume":"11","author":"A Hosani","year":"2005","journal-title":"Eastern Mediterranean Health Journal"},{"key":"B19","doi-asserted-by":"publisher","first-page":"473","DOI":"10.5152\/TurkArchPediatr.2022.16082022","article-title":"Newborn screening: from the past to the future","volume":"57","author":"Aktu\u011flu Zeybek","year":"2022","journal-title":"Turkish Archives of Pediatrics"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.19080\/AJPN.2018.06.555753","article-title":"Towards a uniform newborn screening panel in the kingdom of Saudi arabia","volume":"6","author":"Bashir","year":"2018","journal-title":"American Journal of Psychiatry and Neuroscience"},{"key":"B21","doi-asserted-by":"publisher","first-page":"658","DOI":"10.1097\/GIM.0b013e31821435f7","article-title":"Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety","volume":"13","author":"Kladny","year":"2011","journal-title":"Genet Med"},{"key":"B22","doi-asserted-by":"publisher","first-page":"703","DOI":"10.15537\/smj.2020.7.25147","article-title":"Incidence of newborn screening disorders among 56632 infants in central Saudi Arabia. A 6-year study","volume":"41","author":"Mohamed","year":"2020","journal-title":"Saudi Med J"},{"key":"B23","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1146\/annurev-genom-083117-021320","article-title":"Sickle cell anemia and its phenotypes","volume":"19","author":"Williams","year":"2018","journal-title":"Annu Rev Genomics Hum Genet"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1788876\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T06:21:08Z","timestamp":1781072468000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1788876\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,10]]},"references-count":23,"alternative-id":["10.3389\/fped.2026.1788876"],"URL":"https:\/\/doi.org\/10.3389\/fped.2026.1788876","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,10]]},"article-number":"1788876"}}