Newborn Screening For “Bubble-Baby” Disease Drastically Improves Survival Rates

Screening newborns for severe combined immunodeficiency disease (SCID), commonly known as “bubble-baby” disease, markedly improves survival rates post-bone marrow transplantation. The survival rate rose to 92.5% in children diagnosed and treated at birth. The study demonstrates the significance of early detection and prevention in managing SCID.

North American research, published in The Lancet, shows that screening newborns for SCID has significantly increased survival rates of children undergoing bone marrow transplantation. Since the gradual adoption of newborn screening for SCID in North America in 2008, survival rates rose from 73% between 1982 and 2009 to 87% between 2010 and 2018.

The study was co-led by Elie Haddad, a medical professor at Université de Montréal and a pediatrician and immunologist at the UdeM-affiliated CHU Sainte-Justine mother-and-child hospital. According to Haddad, “The improvement in post-transplant survival is staggering and alone justifies the implementation of a newborn screening test for SCID and other life-threatening diseases of the immune system. This study highlights the importance of prevention and of collaboration in precision health.”

SCID is a disease that severely impairs the immune system and affects 40 to 80 children annually in North America. Although children with SCID appear healthy at birth, they are highly vulnerable to infections. The condition is fatal, typically within the first year of life, if left untreated. Treatments include bone marrow transplants, gene therapy, or enzyme therapy.

The study found that the survival rate jumped to 92.5% for children whose SCID was detected and treated at birth. In contrast, the survival rate was much lower for children diagnosed after symptoms appeared. The study also found that a higher proportion of babies who underwent transplantation without contracting an infection had a major increase in survival rates.

Prior studies had hinted that systematic neonatal screening for SCID could enhance the survival rates of affected children, but the evidence was not definitive. Haddad’s study, carried out in collaboration with multiple research centers in Canada and the U.S., indicates that the increase in survival rates coincides with the introduction of screening tests in various North American regions since 2008. As of 2018, all U.S. states have implemented preventive screening for SCID. Seven provinces and territories in Canada have followed suit, with Quebec in the process of doing so.

The continuous adoption of newborn screening enables earlier detection of SCID before symptoms develop, facilitating swift action to prevent infection and provide necessary treatment. It was previously established that transplantation at an age younger than 3.5 months and the absence of infection considerably enhance survival rates.

Haddad asserted, “Given that we are preventing children from dying and from undergoing much more difficult treatments with subsequent consequences, these results will encourage other countries around the world to adopt newborn screening for SCID and other life-threatening immune diseases that the test can detect.”

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