Introducing widespread screening of newborns for a deadly disease called severe combined immunodeficiency, or SCID, followed by early treatment boosted the five-year survival rate of children with the disorder from 73% before the advent of screening to 87% since, researchers report.
Among children whose disease was suspected because of newborn screening rather than illness or family history, 92.5% survived five years or more after treatment. These findings demonstrate for the first time that newborn screening facilitated the early identification of infants with SCID, leading to prompt treatment before life-threatening infections occurred and thereby increasing the proportion of children who survived to age five or beyond. Researchers at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and colleagues led the retrospective study, which The Lancet published.
PIDTC investigators analyzed data on more than 900 children with confirmed SCID who received treatment for the condition with a transplant of blood-forming stem cells from a non-genetically matched donor at one of 34 sites in the United States or Canada between 1982 and 2018. The researchers examined the five-year overall survival rate of these children from 2010–2018, when state- and province-wide newborn screening was in effect at participating sites, compared to earlier time periods. The researchers excluded infants who received stem-cell transplants from genetically matched sibling donors from the analysis, because these children had high overall survival rates throughout the study period.
The five-year overall survival rate for children with SCID who received a stem-cell transplant from a non-genetically matched donor remained steady at 72% to 73% from 1982 to 2009 despite advances in clinical care, then increased to 87% during the years 2010 to 2018. Among children whose disease was first suspected based on the result of newborn screening rather than on illness or family history of SCID, and who received a transplant between 2010 and 2018, 92.5% survived to age five or beyond.