Save Newborn Lives By Screening For Deadly Immune Diseases

​Did you know 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 and beyond.

Save Newborn Lives By Screening For Deadly Immune Diseases
By Pierre Mouchette | Bits-n-Pieces

Researchers report that 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%.  Among children whose disease was suspected because of newborn screening rather than illness or family history, 92.5% survived five years or more after the 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 and beyond.  Researchers at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and colleagues led the study.

SCID is a rare disorder caused by gene mutations in the infection-fighting immune cells' development and function.  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.  Forty to 80 babies in the United States and Canada are diagnosed with SCID annually.  The number of babies born with the disorder globally is unknown because most countries do not screen for SCID.  

NIAID conducts and supports research at NIH, throughout the United States, and worldwide to study the causes of infectious and immune-mediated diseases and to develop better means of preventing, diagnosing, and treating these illnesses.  News releases, fact sheets, and other NIAID-related materials are available on the NIAID website.   For more information about NIH and its programs, visit www.nih.gov.