How is severe combined immunodeficiency (SCID) screened in newborns?

Updated: May 27, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

In the United States as of December 2018, all 50 states, as well as the District of Columbia, the Navajo Nation, and Puerto Rico, conduct population-wide newborn screening (NBS) for SCID. [19]  T-cell receptor excision circles (TRECs), a biomarker for T lymphopoiesis, can be measured by polymerase chain reaction (PCR) using DNA isolated from infant dried blood spots (DBS). [6, 10]  

A systematic review of the diagnostic performance of published algorithms for TREC-based NBS for SCID concluded that a using a TREC cutoff value of maximal 25 TRECs/μl and incorporating the collection of a repeat DBS from neonatal intensive care unit patients with an abnormal screening result in the screening algorithm would be most effective in screening newborns for primary immunodeficiencies with T cell lymphopenia. [20]


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