The Wisconsin approach to newborn screening for severe combined immunodeficiency
James Verbsky1, Monica Thakar, John Routes
1Division of Rheumatology, Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Insights
Newborn screening using the T-cell receptor excision circle (TREC) assay effectively detects severe combined immunodeficiency (SCID) in infants. Early detection through TREC testing allows for timely treatment, improving outcomes for infants with SCID.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe combined immunodeficiency (SCID) is a critical infant disorder requiring early intervention.
- Hematopoietic cell transplantation offers a cure for SCID if diagnosed promptly.
- Newborn screening programs are essential for identifying at-risk infants.
Purpose of the Study:
- To review the T-cell receptor excision circle (TREC) assay for newborn screening.
- To present findings from Wisconsin's population-based SCID screening program (2008-2010).
- To provide recommendations for TREC assay implementation and infant care.
Main Methods:
- Population-based screening using the TREC assay.
- Analysis of screening data from Wisconsin infants born between January 1, 2008, and December 31, 2010.
- Review of SCID and severe T-cell lymphopenia (TCL) case detection.
Main Results:
- The TREC assay successfully identified infants with SCID or other forms of severe T-cell lymphopenia (TCL).
- No cases of SCID were missed in the screened population.
- Five infants with SCID or TCL were detected during the study period.
Conclusions:
- Newborn population-based screening using the TREC assay is effective for early SCID detection.
- The TREC assay facilitates timely diagnosis and treatment initiation.
- Practical guidelines for screening, evaluation, and care are crucial for managing detected infants.
Abstract:
Severe combined immunodeficiency (SCID) is a life-threatening disease of infants that is curable with hematopoietic cell transplantation if detected early. Population-based screening for SCID using the T-cell receptor excision circle (TREC) assay began in Wisconsin in 2008; 5 infants with SCID or other forms of severe T-cell lymphopenia (TCL) have been detected, and no infants with SCID have been missed. This review will provide an overview of the TREC screening assay and an update of the findings from Wisconsin on all infants screened from January 1, 2008, until December 31, 2010. Importantly, we give practical recommendations regarding newborn population-based screening using the TREC assay, including the evaluation and care of infants detected.
