The University of Virginia Experience at Implementing Newborn Screening for Severe Combined Immunodeficiency (SCID)
Monday, March 7, 2016
South Exhibit Hall H (Convention Center)
Thamiris V Palacios, DO, Brooke Vergales, MD, Julia Wisniewski, MD, Larry Borish, MD FAAAAI, Monica G. Lawrence, MD
Rationale: To evaluate the first 3 months of newborn screening for SCID in the University of Virginia Health System. 

Methods: The State of Virginia Newborn Screening Program started screening for SCID on June 4th, 2015 and approximately 27,000 neonates have been tested since then.  SCID is detected on Guthrie cards by performing quantitative PCR for T-cell receptor excision circles (TRECs), a biomarker of thymic T-cell production. For abnormal specimens, a repeat specimen is ordered and a referral to Immunology is recommended

Results: From June 2015, approximately 27,000 neonates were screened for SCID.  Of these, 19 patients with abnormal or critical values were referred to the University of Virginia Immunology clinic for follow-up, 6 of whom were preterm (<37 weeks gestational age). 14 patients, including all preterm infants, had normal values on repeat testing.  5 patients were evaluated by flow cytometry for persistently low TRECs.  Of these, 0 cases of SCID have been detected, however 1 case of partial DiGeorge syndrome was diagnosed.

Conclusions: Newborn screening for SCID has been a successful initiative as a routine test for all babies born in the state of Virginia. This report summarizes our most recent experience. To date no infants have been confirmed positive for SCID, however newborn screening allowed early diagnosis of DiGeorge syndrome in one patient.  Additional data and follow-up may allow for further adjustments and improvements in our newborn screening for SCID.