Genet Med. 2025 Oct 10:101604. doi: 10.1016/j.gim.2025.101604. Online ahead of print.
ABSTRACT
PURPOSE: To review the performance and outcomes of a second-tier newborn screening test for Pompe disease.
METHODS: We followed our previously published screening approach that reduces false-positive results by incorporating creatine and creatinine levels and postanalytic tools in a second-tier test.
RESULTS: We reviewed 1,879 blood samples from neonates born in 11 states. Second-tier testing effectively reduced false-positive results, as compared with first-tier enzyme testing alone. Only a small number of screen-positive cases (n=7) were confirmed to have infantile-onset Pompe disease. No false-negative cases of infantile-onset Pompe disease were identified in this cohort, and 6 cases of possible late-onset Pompe disease were not detected with this approach.
CONCLUSION: This tiered screening strategy discriminated well between true- and false-positive results and improved the positive predictive value. However, it did not reliably differentiate between infantile- and late-onset Pompe disease.
PMID:41084863 | DOI:10.1016/j.gim.2025.101604
