Abstract
Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.
Highlights
Screening for Severe Combined Immunodeficiency (SCID) based on the quantification of T-cell receptor excision circles (TREC) in dried blood spot (DBS) samples has been implemented in newborn screening panels worldwide [3,4]
In the Danish Neonatal Screening Program, the quantification of TREC is performed by RealtimePCR with an assay that amplifies both TREC and a two-copy reference gen, RPP30
The evaluation of the first 10 months of neonatal screening for SCID in Denmark was based on all newborns in Denmark, Greenland and the Faroe Islands, who had a newborn screening performed between 1st February 2020 and 30th November 2020
Summary
The complete list of disorders in the Danish neonatal screening panel can be found on the Danish neonatal screening website [1]. 2020, screening for Severe Combined Immunodeficiency (SCID) was added as the 18th disorder to the screening panel. Screening for SCID based on the quantification of T-cell receptor excision circles (TREC) in dried blood spot (DBS) samples has been implemented in newborn screening panels worldwide [3,4]. In the Danish Neonatal Screening Program, the quantification of TREC is performed by RealtimePCR with an assay that amplifies both TREC and a two-copy reference gen, RPP30. Prior to implementing the screening in Denmark, a large validation study, including more than 6000 archived neonatal DBS samples as well as SCID-positive DBS samples, was performed in order to evaluate the assay performance and determine the cut-off values for the screening.
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