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

International Journal of Neonatal Screening

JenniferL. Taylor¹  Zheng Fan²  CatherineW. Rehder³  CynthiaM. Powell⁴  Kristin Clinard⁵  ScottM. Shone⁶  KaterinaS. Kucera⁷  Melissa Raspa⁷  KatherineC. Okoniewski⁷  AnneC. Wheeler⁷  HollyL. Peay⁷  Brooke Migliore⁷  Martin Duparc⁷  LisaM. Gehtland⁷  DonaldB. Bailey⁷  BethLincoln Boyea⁷  VeronicaR. Robles⁷ 

[1] American College of Medical Genetics and Genomics, Bethesda, MD 20814, USA;Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA;Department of Pathology, Duke University, Durham, NC 27710, USA;Department of Pediatrics and Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7487, USA;Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7487, USA;North Carolina State Laboratory of Public Health, North Carolina Department of Health and Human Services, Raleigh, NC 27607, USA;RTI International, Research Triangle Park, Durham, NC 27709, USA;

关键词: newborn screening;    spinal muscular atrophy;    genetics;    SMN1 gene;    pilot study;   

DOI  :  10.3390/ijns7010020

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown