| Autor: |
Therrell BL; Department of Pediatrics, University of Texas Health Science Center San Antonio, San Antonio, TX 78229, USA.; National Newborn Screening and Global Resource Center, Austin, TX 78759, USA., Padilla CD; Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila 1000, Philippines., Borrajo GJC; Detección de Errores Congénitos-Fundación Bioquímica Argentina, La Plata 1908, Argentina., Khneisser I; Jacques LOISELET Genetic and Genomic Medical Center, Faculty of Medicine, Saint Joseph University, Beirut 1104 2020, Lebanon., Schielen PCJI; Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands., Knight-Madden J; Caribbean Institute for Health Research-Sickle Cell Unit, The University of the West Indies, Mona, Kingston 7, Jamaica., Malherbe HL; Centre for Human Metabolomics, North-West University, Potchefstroom 2531, South Africa.; Rare Diseases South Africa NPC, The Station Office, Bryanston, Sandton 2021, South Africa., Kase M; Strategic Initiatives Reproductive Health, Revvity, PL10, 10101 Turku, Finland. |
| Abstrakt: |
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert "Bob" Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening. |
