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Newborn screening increases survival outcome for patients with severe combined immunodeficiency
Date:1/27/2011

at every baby with SCID could be treated, and most likely, cured," said Fabio Candotti, MD, Vice Chair of the ASH Scientific Committee on Immunology and Host Defense and Head of the Disorders of Immunity Section in the Genetics and Molecular Biology Branch of the National Human Genome Research Institute at the National Institutes of Health. "Research that promotes early screening and diagnosis is vital for advancing the idea of universal adoption of testing."

The investigators conducted a retrospective cohort study by comparing the outcomes of 60 babies diagnosed at or before birth (between 1982 and 2010) with the outcomes of their relatives who also had the disorder using information gathered from databases from Great Ormond Street Hospital NHS Trust and Newcastle General Hospital in London, U.K.

Results from the study show that, in comparison to the family member with SCID, babies diagnosed at birth had a significantly decreased number of infections (89 percent versus 17 percent, respectively). Patients in the early-diagnosed group were also transplanted earlier and had a dramatically improved survival outcome following HSCT, regardless of donor match, conditioning regimen (chemotherapy or radiation given immediately prior to a transplant to help eliminate the patient's disease and to suppress immune reactions), or type of SCID.

The study showed that 35.4 percent (17 patients) of the 48 family members with SCID died before HSCT, and among the 31 of them who underwent HSCT, 38.7 percent (12 patients) died after the procedure. In comparison, only one patient in the early-diagnosed group died before HSCT and five patients (8.5 percent) died after HSCT. The transplant survival rate of the early-diagnosed group was 91.5 percent (p<.001) compared to 61.3 percent (p<.001) of their relatives with SCID.

"This is the first study that shows formal comparative data to demonstrate that newborn diagnosis can improve survival in SCID patients
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Contact: Lindsey Love
webmaster@hematology.org
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American Society of Hematology
Source:Eurekalert

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