scholarly journals Flow Cytometry Confirmation Post Newborn Screening for SCID in England

2021 ◽  
Vol 8 (1) ◽  
pp. 1
Author(s):  
Kimberly C. Gilmour
Keyword(s):  
Flow Cytometry ◽  
Newborn Screening ◽  
Diagnostic Test ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Evaluation Program ◽  
Over Time

An evaluation program for newborn screening for Severe Combined Immunodeficiency began in England in September 2021 based on TREC analysis. Flow cytometry is being used as the follow up diagnostic test for patients with low/absent TRECS. The immunology laboratories have established a protocol and values for diagnosing SCID, other T lymphopenias and identifying healthy babies. This commentary describes the flow cytometry approach used in England to define SCID, T lymphopenia and normal infants after a low TREC result. It provides background to the flow cytometry assays being used and discusses the need to monitor and potentially change these values over time.

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia

2020 ◽  
Vol 40 (2) ◽  
pp. 321-328 ◽  
Author(s):  
Ethan M. Scott ◽  
Sharat Chandra ◽  
Jinzhu Li ◽  
Eric D. Robinette ◽  
Miraides F. Brown ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Cartilage Hair Hypoplasia

Cost-effectiveness of newborn screening for severe combined immunodeficiency

2019 ◽  
Vol 178 (5) ◽  
pp. 721-729 ◽  
Author(s):  
Catharina P. B. Van der Ploeg ◽  
Maartje Blom ◽  
Robbert G. M. Bredius ◽  
Mirjam van der Burg ◽  
Peter C. J. I. Schielen ◽  
...  
Keyword(s):  
Cost Effectiveness ◽  
Newborn Screening ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency

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.

Two-tiered universal newborn screening strategy for severe combined immunodeficiency

2005 ◽  
Vol 86 (4) ◽  
pp. 427-430 ◽  
Author(s):  
Sean A. McGhee ◽  
E. Richard Stiehm ◽  
Morton Cowan ◽  
Paul Krogstad ◽  
Edward R.B. McCabe
Keyword(s):  
Newborn Screening ◽  
Severe Combined Immunodeficiency ◽  
Screening Strategy ◽  
Combined Immunodeficiency
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