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Article

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

1
RTI International, Research Triangle Park, Durham, NC 27709, USA
2
American College of Medical Genetics and Genomics, Bethesda, MD 20814, USA
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Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7487, USA
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Department of Pathology, Duke University, Durham, NC 27710, USA
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North Carolina State Laboratory of Public Health, North Carolina Department of Health and Human Services, Raleigh, NC 27607, USA
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Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
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Department of Pediatrics and Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7487, USA
*
Author to whom correspondence should be addressed.
Academic Editors: Denise M. Kay and Anne Marie Comeau
Int. J. Neonatal Screen. 2021, 7(1), 20; https://doi.org/10.3390/ijns7010020
Received: 30 January 2021 / Revised: 6 March 2021 / Accepted: 15 March 2021 / Published: 21 March 2021
(This article belongs to the Special Issue Newborn Screening for Spinal Muscular Atrophy)
Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December 2020. We enrolled a total of 12,065 newborns and identified one newborn with 0 copies of SMN1 and two copies of SMN2, consistent with severe early onset of SMA. We also detected one false positive result, likely stemming from an unrelated blood disorder associated with a low white blood cell count. We evaluated the timing of NBS for babies enrolled prenatally (n = 932) and postnatally (n = 11,133) and reasons for delays in screening and reporting. Although prenatal enrollment led to faster return of results (median = 13 days after birth), results for babies enrolled postnatally were still available within a timeframe (median = 21 days after birth) that allowed the opportunity to receive essential treatment early in life. We evaluated an SMA q-PCR screening method at two separate time points, confirming the robustness of the assay. The pilot project provided important information about SMA screening in anticipation of forthcoming statewide expansion as part of regular NBS. View Full-Text
Keywords: newborn screening; spinal muscular atrophy; genetics; SMN1 gene; pilot study newborn screening; spinal muscular atrophy; genetics; SMN1 gene; pilot study
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MDPI and ACS Style

Kucera, K.S.; Taylor, J.L.; Robles, V.R.; Clinard, K.; Migliore, B.; Boyea, B.L.; Okoniewski, K.C.; Duparc, M.; Rehder, C.W.; Shone, S.M.; Fan, Z.; Raspa, M.; Peay, H.L.; Wheeler, A.C.; Powell, C.M.; Bailey, D.B.; Gehtland, L.M. A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check. Int. J. Neonatal Screen. 2021, 7, 20. https://doi.org/10.3390/ijns7010020

AMA Style

Kucera KS, Taylor JL, Robles VR, Clinard K, Migliore B, Boyea BL, Okoniewski KC, Duparc M, Rehder CW, Shone SM, Fan Z, Raspa M, Peay HL, Wheeler AC, Powell CM, Bailey DB, Gehtland LM. A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check. International Journal of Neonatal Screening. 2021; 7(1):20. https://doi.org/10.3390/ijns7010020

Chicago/Turabian Style

Kucera, Katerina S., Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth L. Boyea, Katherine C. Okoniewski, Martin Duparc, Catherine W. Rehder, Scott M. Shone, Zheng Fan, Melissa Raspa, Holly L. Peay, Anne C. Wheeler, Cynthia M. Powell, Donald B. Bailey, and Lisa M. Gehtland. 2021. "A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check" International Journal of Neonatal Screening 7, no. 1: 20. https://doi.org/10.3390/ijns7010020

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