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Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
Published on: December 6, 2014
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
Antonia Kwan1, Roshini S Abraham2, Robert Currier3
1Department of Pediatrics, University of California, San Francisco, San Francisco2UCSF Benioff Children's Hospital, San Francisco, California.
Insights
Newborn screening for severe combined immunodeficiency (SCID) identified affected infants at a rate of 1 in 58,000, with high survival rates following early treatment. This highlights the effectiveness of SCID screening programs in improving infant health outcomes.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe combined immunodeficiency (SCID) is a rare genetic disorder affecting T-cell development.
- Newborn screening for SCID using T-cell receptor excision circles (TRECs) has been implemented in several US states.
- Early detection and treatment are crucial for improving survival rates in infants with SCID.
Purpose of the Study:
- To present data from SCID newborn screening programs across the United States.
- To establish the population-based incidence of SCID and other T-cell lymphopenias.
- To document the effectiveness of early interventions and treatment outcomes for SCID.
Main Methods:
- Retrospective observational study analyzing data from 10 states and the Navajo Nation.
- Included over 3 million newborns screened for SCID using TREC assays between January 2008 and July 2013.
- Classified infants with SCID and T-cell lymphopenia, determining incidence, etiologies, interventions, and survival rates.
Main Results:
- SCID screening identified 52 cases of SCID, leaky SCID, and Omenn syndrome, with an incidence of 1 in 58,000 infants.
- Survival rate for SCID-affected infants through diagnosis and immune reconstitution was 87%, reaching 92% for those receiving transplantation or gene therapy.
- Variations in screening definitions and follow-up practices impacted the detection rates of non-SCID T-cell lymphopenias.
Conclusions:
- Newborn screening programs in the US effectively identified SCID in 1 in 58,000 infants, demonstrating high survival rates.
- The study underscores the importance of TREC-based screening for early SCID detection and timely treatment.
- Further evaluation is needed to determine the clinical utility of detecting non-SCID T-cell lymphopenias through newborn screening.
Importance:
Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births.
Objectives:
To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments.
Design:
Epidemiological and retrospective observational study.
Setting:
Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3,030,083 newborns screened with a TREC test.
Main Outcomes And Measures:
Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked.
Results:
Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58,000 infants (95% CI, 1/46,000-1/80,000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87% (45/52), 92% (45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia.
Conclusions And Relevance:
Newborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined.
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