Babies Screened Early for SCID Were More Likely to Live

Severe combined immunodeficiency incidence in newborns was higher than predicted

(RxWiki News) Immunodeficiency in newborns can put them at risk for death or lifelong health problems. New research shows how important early screening may be for newborns' health.

A recent study found that severe combined immunodeficiency (SCID) was previously underdiagnosed in newborns and that the incidence rate of the condition was much higher than previously expected.

The researchers discovered that the survival rate for newborns who received early diagnosis and treatment was high.

"Talk to an obstetrician about screening your newborn for SCID."

This study was written by Antonia Kwan, PhD, MRCPCH, from the University of California, San Francisco, and UCSF Benioff Children’s Hospital, and colleagues.

The study included 3,030,083 newborns who were screened for SCID between January 2008 and July 2013.

A central feature of SCID is that the body does not produce enough T cells (white blood cells that help fight infection).

The newborns in the study underwent TREC testing — a screening process that involves looking for T cell receptor excision circles (TRECs). The researchers explained that, in previous studies, newborns who did not have any TRECs were later diagnosed with SCID.

The study authors detected 52 total cases of SCID through the TREC test. The incidence rate of SCID was 1 case out of every 58,000 newborns.

The authors discovered that 87 percent of the SCID-affected newborns survived because they were diagnosed early enough and treated.

The survival rate was 92 percent for the SCID-affected newborns who received transplants, enzyme replacement or gene therapy.

Overall, the researchers found that the incidence rate of SCID was much higher than the rate of 1 case out of 100,000 newborns previous studies had suggested.

"These findings support the view that SCID has previously been underdiagnosed in infants with fatal infections," the authors wrote.

However, the study authors could not determine whether TREC testing was a useful method to detect non-SCID T cell lymphopenias.

There were variations in the definition and follow-up practices of different SCID screening programs.

This study was published Aug. 19 in JAMA.

Funding was provided by the National Institutes of Health, the HCA International Foundation Traveling Scholarship, the Jeffrey Modell Foundation, PerkinElmer Genetics, and various state and private agencies. The authors disclosed no conflicts of interest.

Review Date: 
August 19, 2014