scholarly journals Value of Newborn Screening Programs for Severe Combined Immunodeficiency

2021 ◽  
Author(s):  
Elisa Pirozzi
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
Positive Family History ◽  
Cell Receptor ◽  
Screening Tests ◽  
Combined Immunodeficiency ◽  
Medical Progress ◽  
Screening Programs ◽  
Life Threatening

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.

scholarly journals Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

2021 ◽  
Vol 7 (3) ◽  
pp. 40
Author(s):  
Anne E. Atkins ◽  
Michael F. Cogley ◽  
Mei W. Baker
Keyword(s):  
Newborn Screening ◽  
Premature Infant ◽  
Gestational Age ◽  
Linear Regression Analysis ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Full Term ◽  
Combined Immunodeficiency ◽  
Term Infants ◽  
Preterm Newborns

The Wisconsin Newborn Screening (NBS) Program began screening for severe combined immunodeficiency (SCID) in 2008, using real-time PCR to quantitate T-cell receptor excision circles (TRECs) in DNA isolated from dried blood NBS specimens. Prompted by the observation that there were disproportionately more screening-positive cases in premature infants, we performed a study to assess whether there is a difference in TRECs between full-term and preterm newborns. Based on de-identified SCID data from 1 January to 30 June 2008, we evaluated the TRECs from 2510 preterm newborns (gestational age, 23–36 weeks) whose specimens were collected ≤72 h after birth. The TRECs from 5020 full-term newborns were included as controls. The relationship between TRECs and gestational age in weeks was estimated using linear regression analysis. The estimated increase in TRECs for every additional week of gestation is 9.60%. The 95% confidence interval is 8.95% to 10.25% (p ≤ 0.0001). Our data suggest that TRECs increase at a steady rate as gestational age increases. These results provide rationale for Wisconsin’s existing premature infant screening procedure of recommending repeat NBS following an SCID screening positive in a premature infant instead of the flow cytometry confirmatory testing for SCID screening positives in full-term infants.

scholarly journals A súlyos kombinált immundefektusok újszülöttkori szűrővizsgálata

2018 ◽  
Vol 159 (23) ◽  
pp. 948-956
Author(s):  
Melinda Erdős
Keyword(s):  
Immune Deficiency ◽  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
The United States ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program ◽  
Negative Family History ◽  
Combined Immunodeficiencies ◽  
Severe Combined Immunodeficiencies

Abstract: Severe combined immunodeficiency is the first immune deficiency disorder which was included in the newborn screening program in the United States in 2010. In Hungary, newborn screening for severe combined immunodeficiencies is crucial because of the routine BCG vaccination, as in the case of an affected newborn with negative family history, the vaccine may lead to fatal BCG-itis. This paper analyzes the possibilities of introducing newborn screening for severe combined immunodeficiencies and summarizes current experiences and results. Orv Hetil. 2018; 159(23): 948–956.

scholarly journals First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

2019 ◽  
Vol 10 ◽  
Author(s):  
Ana Argudo-Ramírez ◽  
Andrea Martín-Nalda ◽  
Jose L. Marín-Soria ◽  
Rosa M. López-Galera ◽  
Sonia Pajares-García ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program
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