Original Research Article | Published:

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

Genetics in Medicine volume 20, pages 608613 (2018) | Download Citation

The first two authors contributed equally to this work.

Abstract

Purpose

To determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.

Methods

We validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.

Results

Ninety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1.5%. We identified one newborn with a homozygous SMN1 deletion and two copies of SMN2, which strongly suggests the severe type 1 SMA phenotype. The infant was enrolled in the NURTURE clinical trial and was first treated with Spinraza at age 15 days. She is now age 12 months, meeting all developmental milestones, and free of any respiratory issues.

Conclusion

Our pilot study demonstrates the feasibility of population-based screening, the acceptance by families, and the benefit of newborn screening for SMA. We suggest that SMA be considered for addition to the national recommended uniform screening panel.

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Acknowledgements

Funding was provided to Columbia University Medical Center by Biogen, Idec. Wadsworth Center contracted for laboratory testing from Columbia University Medical Center. We thank the patients and their families for participating, the Pediatric Neuromuscular Clinical Research Network and Biogen, Idec for contribution of DNA samples as controls. We thank the hospital staff, especially Jacqueline Gomez and Angela Pena; the newborn screening staff, especially Sandra Levin and Patrick Wilson; and Rosangel Cruz for her oversight of the NURTURE study at Columbia University.

Author information

Affiliations

  1. Department of Pediatrics, Columbia University, New York, New York, USA

    • Jennifer N Kraszewski
    • , Carrie Koval
    • , Bianca Haser
    • , Veronica Ortiz
    • , Anthony Albertorio
    • , Darryl C De Vivo
    •  & Wendy K Chung
  2. Department of Epidemiology, Columbia University, New York, New York, USA

    • Jennifer N Kraszewski
  3. Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA

    • Denise M Kay
    • , Colleen F Stevens
    • , Ritu Jain
    •  & Michele Caggana
  4. Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA

    • Lilian L Cohen
  5. Department of Neurology, Columbia University, New York, New York, USA

    • Sarah P Andrew
    • , Sally Dunaway Young
    • , Nicole M LaMarca
    •  & Darryl C De Vivo
  6. Columbia University School of Nursing, New York, New York, USA

    • Nicole M LaMarca
  7. Department of Medicine, Columbia University, New York, New York, USA

    • Wendy K Chung

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Competing interests

The authors declare no conflict of interest.

Corresponding author

Correspondence to Wendy K Chung.

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DOI

https://doi.org/10.1038/gim.2017.152

Supplementary material is linked to the online version of the paper at http://www.nature.com/gim