The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants

PURPOSE: We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSD) for public health mandated screening. METHODS: At five participating high-birth-rate, ethnically diverse New York City hospitals, recruiters discussed the study with post-partum parents and documented verbal consent. Screening on consented samples was performed using multiplexed tandem mass spectrometry. Screen-positive infants underwent confirmatory enzymology, DNA testing, and biomarker quantitation when available. Affected infants are being followed for clinical management and long term outcome. RESULTS: 65,605 infants participated over four years, representing an overall consent rate of 74%. Sixty-nine infants were screen-positive. Twenty-three were confirmed true positives, all of whom were predicted to have late-onset phenotypes. Six of the 69 currently have undetermined disease status. CONCLUSION: Our results suggest that NBS for LSDs is much more likely to detect individuals at risk for late-onset disease, similar to results from other NBS programs. This work has demonstrated the feasibility of using a novel consented pilot NBS study design that can be modified to include other disorders under consideration for public health implementation as a means to gather critical evidence for evidence-based NBS practices.