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A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
Katerina S Kucera1, Jennifer L Taylor2, Veronica R Robles1
1RTI International, Research Triangle Park, Durham, NC 27709, USA.
Insights
Early Check offered voluntary newborn screening for spinal muscular atrophy (SMA) before statewide implementation. The pilot study successfully identified one case of SMA and confirmed the screening assay
Area of Science:
- Genetics and Genetic Disorders
- Newborn Screening
- Neuromuscular Diseases
Background:
- North Carolina implemented voluntary newborn screening (NBS) for spinal muscular atrophy (SMA) via the Early Check (EC) research study prior to statewide expansion.
- The EC study aimed to gather data on the feasibility and effectiveness of SMA screening in newborns.
Purpose of the Study:
- To describe the experience and outcomes of voluntary SMA NBS through the EC research study from October 2018 to December 2020.
- To evaluate the timing of screening for prenatally and postnatally enrolled infants and identify reasons for delays.
- To assess the performance of the SMA quantitative PCR (q-PCR) screening assay.
Main Methods:
- Enrolled 12,065 newborns for voluntary screening.
- Utilized a quantitative PCR (q-PCR) assay to screen for SMA by analyzing SMN1 and SMN2 gene copy numbers.
- Compared screening and reporting times for infants enrolled prenatally versus postnatally.
Main Results:
- Identified one newborn with a confirmed diagnosis of SMA (0 copies of SMN1, 2 copies of SMN2).
- Detected one false positive result, potentially due to an unrelated blood disorder.
- Prenatal enrollment resulted in faster return of results (median 13 days) compared to postnatal enrollment (median 21 days), both within a clinically relevant timeframe for early treatment.
Conclusions:
- The EC pilot project successfully demonstrated the capability to screen for SMA in newborns, identifying a case requiring early intervention.
- The SMA q-PCR screening method proved robust and reliable.
- The findings provided valuable insights for the upcoming statewide NBS program for SMA.
Abstract:
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.
