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 (LSDs) for public health mandated screening.


At five participating high–birth rate, ethnically diverse New York City hospitals, recruiters discussed the study with postpartum 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.


Over 4 years, 65,605 infants participated, representing an overall consent rate of 73%. 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.


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.

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Special thanks to Dalia Makarem, Aliza Quinones, Katherine Carome, Rebecca Zarchin, Tori Velez, Ryan Wilson, Chad Biski, and Christopher Johnson, and to Priya Kishnani and Deeksha Bali for their expert advice. Research reported in this publication was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health under award number R01HD073292. This research was facilitated by the Newborn Screening Translational Research Network (NBSTRN), which is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (HHSN275201300011C).

Author information


  1. Albert Einstein College of Medicine and the Children’s Hospital at Montefiore, Bronx, New York, USA

    • Melissa P. Wasserstein MD
    • , Nicole R. Kelly MPH
    •  & Suhas M. Nafday MD
  2. Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA

    • Michele Caggana Sc.D.
    • , Monica Martin PhD
    •  & Joseph J. Orsini PhD
  3. New York University School of Medicine and NYU Langone Health, New York, New York, USA

    • Sean M. Bailey MD
  4. Icahn School of Medicine at Mount Sinai and the Mount Sinai Medical Center, New York, New York, USA

    • Robert J. Desnick PhD, MD
    • , Lisa Edelmann PhD
    • , Lissette Estrella NP
    • , Ian Holzman MD
    • , Ruth Kornreich PhD
    • , Amy Yang MD
    •  & Chunli Yu MD
  5. Maimonides Medical Center, Brooklyn, New York, USA

    • S. Gabriel Kupchik MD
  6. New York City Health and Hospitals/Elmhurst, Queens, New York, USA

    • Randi Wasserman MD


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Melissa Wasserstein has served as a consultant for and has received travel reimbursement from Sanofi Genzyme. Robert J. Desnick is a consultant for Amicus Therapeutics, Sanofi Genzyme, and Sangamo Therapeutics. He has received research grants from Sanofi Genzyme and Sangamo Therapeutics. He owns founder's shares for Amicus Therapeutics and options for Sangamo Therapeutics. He has patents for Fabry and Niemann–Pick treatments and receives royalties from Sanofi Genzyme. Lisa Edelmann is an employee of Sema4, a for-profit genetic testing laboratory. Ruth Kornreich is an employee of Sema4, a for-profit genetic testing laboratory. Amy Yang has served as a consultant for Shire Therapeutics. Chunli Yu is an employee of Sema4, a for-profit genetic testing laboratory. The other authors declare no conflicts of interest.

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Correspondence to Melissa P. Wasserstein MD.

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