Screening newborns for deadly immune disease saves lives, according to a new study.
Introducing widespread screening of newborn babies 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 5 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, published in The Lancet.
“This study definitively shows that population-wide newborn screening for SCID has made it possible to save the lives of many more children with the disorder than ever before,” said NIAID Acting Director, Hugh Auchincloss.
“We hope these findings will encourage more countries to screen newborns for this devastating disease.”
Screening newborns for deadly immune disease saves lives
SCID is a rare disorder caused by mutations in genes involved in the development and function of infection-fighting immune cells.
Infants with SCID appear healthy at birth but are highly susceptible to severe infections.
The condition is fatal, usually within the first year or two of life, unless the infant receives an immune-restoring treatment such as a stem-cell transplant, gene therapy or enzyme therapy.
The number of babies born with the disorder globally is unknown because most countries do not yet screen for SCID.
NIH scientists developed a newborn screening test for SCID in 2005.
The test’s gradual adoption has made it possible to detect the disease in infants before symptoms appear, take steps to prevent infection, and provide life-saving treatment early.
Several studies previously suggested that population-wide newborn screening for SCID improved survival, but none proved it.
Population-wide newborn screening
For this reason, the NIH-funded Primary Immune Deficiency Treatment Consortium (PIDTC) set out to definitively measure whether the introduction of population-wide newborn screening for SCID had improved the overall survival of infants with the disease.
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.