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The problem
Intervention: ADA-specific newborn screening using deoxyadenosine concentration measurement in dried blood spots via tandem mass spectrometry with a cutoff value of 0.06 μmol/L
Who it was tested with: Newborns in Kumamoto, Japan (n=9,550).
Experience from people who deliver programmes: stories, case studies and lessons learned. Valuable for understanding how and why, and for spotting what to test next, but not a measure of effect.
"A total of 9550 newborns were screened. The rate of second DBS requests was 4/9550 (0.04%). Among these, only one newborn showed persistent elevation of deoxyadenosine level and was referred for immunological testing." This demonstrates prospective implementation-based evidence that the screening approach successfully identified a case that conventional methods would have missed.
This is an initial experience report from a single region covering only 10 months with very small absolute numbers; long-term outcomes and broader population applicability are unknown; no comparison group for standard screening methods.
Across countries and designs
1 study · 1 country
