Abstract
After it was demonstrated in 2005 that T cell receptor excision circle (TREC) quantification for dried blood spot (DBS) samples on Guthrie cards is an effective means of SCID screening and following several pilot studies, the practice was formally recommended in the US in 2010. More and more countries have adopted it since then. In France, before the health authorities could recommend adding SCID to the list of five diseases that were routinely screened for, feasibility and cost-effectiveness studies had to be conducted with a sufficiently large cohort of neonates. We carried out three such studies: The first sought to verify the effectiveness of the assay. The second, DEPISTREC, evaluated the feasibility of universal SCID screening in France and assessed the clinical benefit and economic advantage it would provide. Through the third study, NeoSKID, still under way and to continue until recommendations are issued, we have been offering SCID screening in the Pays de la Loire region of France. This review briefly describes routine newborn screening (NBS) and management of primary immunodeficiency diseases (PIDs) in France, and then considers the lessons from our studies and the status of SCID screening implementation within the country.
Highlights
In 2005, Chan and Puck [1] demonstrated that T cell receptor excision circles (TRECs) are undetectable in peripheral blood from SCID neonates
After it was demonstrated in 2005 that T cell receptor excision circle (TREC) quantification for dried blood spot (DBS) samples on Guthrie cards is an effective means of SCID screening and following several pilot studies, the practice was formally recommended in the US in 2010
Since October 2019, through the ongoing NeoSKID program approved by the ethical review board of Nantes, we have continued to offer SCID newborn screening (NBS) through TREC quantification at the Pays de la Loire regional screening center for all children born in the region
Summary
In 2005, Chan and Puck [1] demonstrated that T cell receptor excision circles (TRECs) are undetectable in peripheral blood from SCID neonates. As several screening methods had Before the authorities could recommend including SCID, feasibility and cost-effecbeen published, we conducted a preliminary single-center study in 2012. It was not a pilot tiveness studies with a large cohort of newborns were required. In October 2019, after a lengthy pause, we began to offer routine SCID screening in the Pays de la Loire region of France—for all babies born there—through the NeoSKID program The aim of this program, which we intend to pursue until national recommendations are released, is to continue analyzing clinical data and identify any other causes that contribute to abnormal results. Society for Neonatal Screening and UK NBS network in January 2021
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