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Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

Morna Dorsey1, Jennifer Puck2

  • 1Department of Pediatrics, Division of Allergy, Immunology and Bone Marrow Transplant, University of California San Francisco, San Francisco, CA 94158, USA.

International Journal of Neonatal Screening
|July 16, 2019
PubMed

Insights

Newborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) assays has expanded rapidly across the US. This early detection has significantly improved outcomes for infants with SCID.

Area of Science:

  • Immunology
  • Genetics
  • Public Health

Background:

  • Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that affect the immune system.
  • Early detection and treatment of SCID are crucial for improving infant survival rates.

Purpose of the Study:

  • To describe the adoption and impact of T cell receptor excision circles (TRECs) newborn screening for SCID in the United States.
  • To highlight the advancements in SCID newborn screening (NBS) over the past nine years.

Main Methods:

  • Analysis of the implementation and expansion of TREC assay for SCID screening in US states.
  • Review of advancements in SCID NBS technology and its impact on patient outcomes.

Main Results:

  • TREC assay for SCID detection was piloted in Wisconsin in 2008 and has since been adopted by 49 states and Puerto Rico.
  • Significant improvements in the detection capabilities for SCID have been achieved over the last nine years.

Conclusions:

  • The widespread adoption of TREC-based newborn screening has revolutionized SCID detection.
  • These advancements have led to profound improvements in the outcomes for children diagnosed with SCID.

Keywords:
Severe combined immunodeficiencyT lymphopeniaTRECsnewborn screeningpreterm

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