Preprint / Version 1

Value of Newborn Screening Programs for Severe Combined Immunodeficiency


  • Elisa Pirozzi Trinity College Dublin, College of Medicine



Severe Combined Immunodeficiency Disease (SCID) is life-threatening disease of infancy and childhood characterized by recurrent infections and failure to thrive. Given the modern medical progress made available for treating SCID, early identification of these children is paramount to their wellbeing and overall survival into adulthood. Newborn screening (NBS) programs provide the opportunity to identify SCID patients before life-threatening infections can manifest. The T-cell receptor excision circles (TRECs) assay currently used for SCID screening has been shown to satisfy all parameters of an effective screening test.  Its widespread use is indicated by the time-sensitive nature of the disease, its efficacy in reducing morbidity and mortality in these patients, and the cost-effectiveness of prompt recognition versus long-term management. While immensely beneficial, screening tests still hold limitations that require analyzing. Follow-up measures for SCID identification programs have identified ambiguity and inconsistency among testing algorithms across facilities and technical errors that have causes inaccurate results. Considering fewer than 20% of SCID patients report a positive family history and the lethal consequences of disease if left untreated, a screening program is a highly valuable tool for early diagnosis and prompt intervention.


SCID, Newborn Screening, Excision Circles


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