The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa P. Wasserstein, Michele Caggana, Sean M. Bailey, Robert J. Desnick, Lisa Edelmann, Lissette Estrella, Ian Holzman, Nicole R. Kelly, Ruth Kornreich, S. Gabriel Kupchik, Monica Martin, Suhas M. Nafday, Randi Wasserman, Amy Yang, Chunli Yu, Joseph J. Orsini

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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 (LSDs) for public health mandated screening. Methods: 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. Results: 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. 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.

Original languageEnglish (US)
JournalGenetics in Medicine
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Lysosomal Storage Diseases
Newborn Infant
Public Health
Urban Hospitals
Tandem Mass Spectrometry
Postpartum Period
Biomarkers
Parents
Phenotype
DNA

Keywords

  • newborn screening
  • pilot newborn screen; lysosomal storage disorders; informed consent

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

The New York pilot newborn screening program for lysosomal storage diseases : Report of the First 65,000 Infants. / Wasserstein, Melissa P.; Caggana, Michele; Bailey, Sean M.; Desnick, Robert J.; Edelmann, Lisa; Estrella, Lissette; Holzman, Ian; Kelly, Nicole R.; Kornreich, Ruth; Kupchik, S. Gabriel; Martin, Monica; Nafday, Suhas M.; Wasserman, Randi; Yang, Amy; Yu, Chunli; Orsini, Joseph J.

In: Genetics in Medicine, 01.01.2018.

Research output: Contribution to journalArticle

Wasserstein, MP, Caggana, M, Bailey, SM, Desnick, RJ, Edelmann, L, Estrella, L, Holzman, I, Kelly, NR, Kornreich, R, Kupchik, SG, Martin, M, Nafday, SM, Wasserman, R, Yang, A, Yu, C & Orsini, JJ 2018, 'The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants', Genetics in Medicine. https://doi.org/10.1038/s41436-018-0129-y
Wasserstein, Melissa P. ; Caggana, Michele ; Bailey, Sean M. ; Desnick, Robert J. ; Edelmann, Lisa ; Estrella, Lissette ; Holzman, Ian ; Kelly, Nicole R. ; Kornreich, Ruth ; Kupchik, S. Gabriel ; Martin, Monica ; Nafday, Suhas M. ; Wasserman, Randi ; Yang, Amy ; Yu, Chunli ; Orsini, Joseph J. / The New York pilot newborn screening program for lysosomal storage diseases : Report of the First 65,000 Infants. In: Genetics in Medicine. 2018.
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AU - Desnick, Robert J.

AU - Edelmann, Lisa

AU - Estrella, Lissette

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AU - Martin, Monica

AU - Nafday, Suhas M.

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AU - Yu, Chunli

AU - Orsini, Joseph J.

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