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

Autor:	Kucera KS; RTI International, Research Triangle Park, Durham, NC 27709, USA., Taylor JL; American College of Medical Genetics and Genomics, Bethesda, MD 20814, USA., Robles VR; RTI International, Research Triangle Park, Durham, NC 27709, USA., Clinard K; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7487, USA., Migliore B; RTI International, Research Triangle Park, Durham, NC 27709, USA., Boyea BL; RTI International, Research Triangle Park, Durham, NC 27709, USA., Okoniewski KC; RTI International, Research Triangle Park, Durham, NC 27709, USA., Duparc M; RTI International, Research Triangle Park, Durham, NC 27709, USA., Rehder CW; Department of Pathology, Duke University, Durham, NC 27710, USA., Shone SM; North Carolina State Laboratory of Public Health, North Carolina Department of Health and Human Services, Raleigh, NC 27607, USA., Fan Z; Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Raspa M; RTI International, Research Triangle Park, Durham, NC 27709, USA., Peay HL; RTI International, Research Triangle Park, Durham, NC 27709, USA., Wheeler AC; RTI International, Research Triangle Park, Durham, NC 27709, USA., Powell CM; Department of Pediatrics and Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7487, USA., Bailey DB Jr; RTI International, Research Triangle Park, Durham, NC 27709, USA., Gehtland LM; RTI International, Research Triangle Park, Durham, NC 27709, USA.
Jazyk:	angličtina
Zdroj:	International journal of neonatal screening [Int J Neonatal Screen] 2021 Mar 21; Vol. 7 (1). Date of Electronic Publication: 2021 Mar 21.
DOI:	10.3390/ijns7010020
Abstrakt:	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.
Databáze:	MEDLINE
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