Newborn Screening for Severe Combined Immodeficiency (SCID)

Background

With the support of the Hawaiʻi community-based SCID Task Force, the Hawaiʻi Newborn Metabolic Screening Program Advisory Committee recommended the addition of SCID to the state newborn screening (NBS) panel. SCID is on the NBS panel as of March 1, 2015.

Implications for Your Practice

  • Severe Combined Immunodeficiency (SCID) is on the state newborn screening (NBS) panel as of March 1, 2015.
  • NBS for SCID is a screening test. DO NOT base a diagnosis of SCID on a positive NBS result. Diagnosis of SCID needs to be confirmed with additional diagnostic tests and a Pediatric Immunologist evaluation. The Hawaiʻi Newborn Screening Program can assist you with the coordination of the follow-up to confirm a diagnosis of SCID in the newborn.
  • Families and infants diagnosed with SCID should receive immediate confirmatory testing and a Pediatric Immunologist evaluation with counseling.
  • NBS does not detect all cases of SCID in newborns.
  • SCID occurs once in every 54,000 births in the United States.
  • SCID is a primary immune disorder. Common infections and vaccines are life-threatening without treatment.
  • Long-term treatment is a bone marrow transplant or gene therapy.
  • To ensure the babies born in Hawaiʻi have access to the life-saving treatment options, a partnership between Kapi’olani Medical Center for Women and Children, the University of California at Los Angeles Mattel’s Children’s Hospital, and the Hawaiʻi Department of Health has been created.

Screening Methodology

Hawaiʻi follows the testing algorithm used by the Washington State Department of Health, Hawaii’s contracted NBS laboratory. The algorithm involves initial T-cell receptor incision circles (TRECs) testing of the blood spot specimen routinely collected after birth ≥ 24 hours.

Questions

For additional information & questions, please contact:
Dana Mulcahy, MSN, RN | NIS
Newborn Metabolic Screening Program Coordinator
dana.mulcahy@doh.hawaii.gov