Neonatal screening improved survival in severe combined immunodeficiency
Inclusion of screening for severe combined immunodeficiency in the neonatal screening significantly increased the five-year survival of these children. The main factors that influenced survival were early hematopoietic stem cell transplantation and absence of infections before transplantation.Researchers from the U.S. National Institute of Allergy and Infectious Diseases (NIAID) evaluated the effectiveness of neonatal screening for severe combined immunodeficiency disease (SCID). The results of the study are published on the National Institutes of Health (NIH) website, citing The Lancet.
The five-year survival rate was 73% for 28 years of follow-up until screening began, when it increased to 87%. The five-year survival rate for children diagnosed with severe combined immunodeficiency from screening was 92.5%. If the disease was detected because of clinical signs, the five-year survival rate was 79.9%, and for children diagnosed because of a family history, it was 85.4%.
Researchers cited active infections, having a hematopoietic stem cell transplant at 3.5 months of age or older, and certain TCID genotypes as the main factors that reduced survival. Further analysis showed that survival of children after the introduction of screening for severe combined immunodeficiency was improved by early allogeneic hematopoietic stem cell transplantation and the absence of infections before the procedure.
Researchers evaluated the survival of 902 children with SCID who underwent allogeneic hematopoietic stem cell transplantation at 34 medical centers in the United States and Canada before screening was introduced (from 1982 to 2009) and after it began (from 2010 to 2018).
The authors emphasized that screening for SCID should be included in neonatal screening worldwide.