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Positive Result:
Blood Spot Screen Result Notification
Minnesota Newborn
Screening Program
Severe Combined Immunodeficiency (SCID)
Next Steps
False Positives
Today, you should take the following recommended
actions:
False positive results have been identified in premature
and significantly ill newborns. Screening result can be
impacted by transfusion involving any blood product
or fluid bolus.
• Consult with pediatric immunologist/infectious disease specialist. Contact information for the
specialists can be found on the resource list
provided.
• Contact family to notify them of the newborn
screening result and assess for signs of illness
or infection; arrange immediate referral to
pediatric hospital if symptomatic.
• Arrange laboratory testing and referral as
recommended by the immunologist/infectious
disease specialist.
If you have questions about the newborn screening
result or your next steps, an on-call Newborn
Screening Program genetic counselor is available at
(651) 201-3548.
Differential Diagnosis
This result is associated with:
• SCID — Incidence of 1 in 50,000 (more common
in the Amish, Somali, and Navajo indian
populations)
• T-cell lymphopenias (idiopathic or syndromic)
• 22q11.2 deletion syndromes (e.g., DiGeorge)
• Down syndrome
Clinical Summary
Review with Family
The screening test measures TRECs (T-cell Receptor
Excision Circles), which are small circles of DNA created
during T-cell maturation.
Discuss this result with the family as MDH has not
notified them. Share your follow-up plan with them.
Educate family about signs, symptoms, and when to
contact you with concerns.
When T-cells fail to develop and B lymphocytes are
either absent or compromised, it can lead to SCID.
SCID is a group of rare, serious, and potentially fatal
disorders.
Family should avoid unnecessary public exposures
until further evaluation is complete. Additionally,
avoid unnecessary contact with any individuals who
have recently received a live vaccine until further
evaluation demonstrates that the child has normal
immunity.
Newborns with SCID are typically asymptomatic.
Some infants may exhibit signs of illness or infection.
Affected children have multiple infections in infancy
and die early if effective intervention is not provided.
Hematopoietic stem cell transplantation may be
curative. Transplants performed within the first few
months of life or before infections occur are most
successful. Enzyme replacement and experimental
gene therapies are available for some types of SCID.
Newborn Screening Program, 601 Robert St. N., St. Paul, MN 55155
Phone (800) 664-7772, Fax (651) 215-6285
REV 12/2016