Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023)

Abstract

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.

Keywords: Asia–Pacific; Caribbean; Europe; Latin America; Middle East North Africa; North America; Sub-Saharan Africa; global; international data; newborn screening.

Figure 1

Map showing countries considered to be in North America. (Note: This portion of the report only addresses the United States and Canada).

Figure 2

Map showing Canadian provinces and territories. Jurisdictions of the same color utilize the same screening laboratory (laboratory location indicated by a star).

Figure 3

Map showing extent of Asia–Pacific region.

Figure 4

Map showing the European region.

Figure 5

Map of Latin America (a) and Caribbean region (b).

Figure 6

Map showing the 19 countries included in the Middle East–North Africa (MENA) region.

Figure 7

Map showing the countries of sub-Saharan Africa.

Figure 8

(a) Cartogram showing conventional view of world land masses (for reference), (b) cartogram showing proportional land masses based on current populations, (c) cartogram showing proportional land masses based on current births showing influence of sub-Saharan Africa (green). [Note: All maps are available online at: https://worldmapper.org/ (accessed on 10 January 2024)].