Intractable Rare Dis Res. 2022;11(2):63-69. (DOI: 10.5582/irdr.2022.01039)

Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey

Fidan Ç, Örün H, Alper AB, Ünver ÇN, Şahin ÖC, Uğurlu Z, Akdur R, Taruscio D


Bloodspot screening in newborns is an exemplary public health intervention as it is essential secondary prevention with proven efficacy and benefit for the early diagnosis and prompt treatment of rare diseases. In this mini review, newborn bloodspot screening (NBS) programs of 12 countries were examined in terms of the extent of diseases/disorders screened to form recommendations for Turkey's expanded newborn screening program. Essentially, Turkey and 11 selected countries' official policies/ national programs or strategies in terms of newborn screening and the number of diseases/conditions screened were examined. The current status of spinal muscular atrophy (SMA) screening was also checked through the SMA NBS Alliance. In addition, WHO and EURORDIS guidelines for newborn screening were also reviewed. On the Pubmed database, following the search strategy "((newborn screening[Title/Abstract]) OR (newborn screening program[Title/Abstract])) OR (newborn blood spot screening[Title/Abstract])" in the PubMed database from 1 January 2008 to 1 December 2021. Diseases that will be recommended to be included in the Turkish national newborn bloodspot screening program will be presented by evaluating the updated criteria of Wilson and Jungner by constructing international comparisons. The number of diseases/disorders screened by the inspected 12 countries is eminently variable and ranges from 5 in Turkey to 51 in New York, United States of America (USA). Acknowledging the programs of other countries, it is evident that Turkey must advance its program by evaluating the epidemiological data in Turkey, the health workforce, and infrastructure while relying on the updated screening criteria. The newborn bloodspot screening program should be expanded based on the cost estimates and implemented starting with pilot applications and the diseases/disorders that are deemed appropriate should be included in the national program.

KEYWORDS: rare diseases, neonatal screening, newborn screening, dried blood spots, secondary prevention

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