Rationale: Severe combined immunodeficiency (SCID) is a serious, life-threatening condition for which universal newborn screening was recommended in 2010. Prompt diagnosis and hematopoietic stem cell transplantation (HSCT) is associated with increased survival. Previous studies have identified 3.5 months as an ideal timepoint for HSCT. We aim to report the impact of newborn screening on time to transplant in our cohort.
Methods: We reviewed medical records of patients who received HSCT for SCID at The Children’s Hospital of Philadelphia between January 2010 and August 2015. We obtained data on mode of diagnosis and age at HSCT.
Results: 19 SCID patients received HSCT for SCID at our center between January 2010 and August 2015. Six patients were diagnosed based on TREC newborn screen and received a HSCT at a median age of 2.95 months (range 0.9 to 3.9 months). Of these, 2 had family history (FH) of SCID/immunodeficiency. Two patients were diagnosed based on testing performed due to known FH of SCID (prenatal genetic testing n=1, flow cytometry and genetic testing within 24 hours of life n=1). Median age at transplantation for these patients was 0.65 months (range 0.6 to 0.7 months). The remaining 11 patients were diagnosed based on clinical history that prompted an immunodeficiency evaluation. Of these, none had prior FH of SCID/immunodeficiency. These patients underwent HSCT at a median age of 9.4 months (range 3.8 to 237.8 months).
Conclusions: Newborn screening or early diagnosis based on FH of SCID appears to reduce time to HSCT for patients with SCID.