Special Issue "Newborn Screening for Spinal Muscular Atrophy"

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (30 April 2021).

Special Issue Editors

Dr. Denise M. Kay
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Guest Editor
Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, David Axelrod Institute, 120 New Scotland Ave, Albany, NY 12208, USA
Interests: Genetic diseases affecting infants and children; newborn screening; genetic epidemiology; Expanded genetic analysis and next-generation sequencing in newborn screening; cystic fibrosis (cf); Spinal Muscular Atrophy (SMA); Genetics of congenital malformations
Prof. Dr. Anne Marie Comeau
E-Mail
Guest Editor
New England Newborn Screening Program, Department of Pediatrics, University of Massachusetts Medical School, Biotech 4, Floor 2, 377 Plantation St., Worcester, MA 01605-2300, USA

Special Issue Information

Dear Colleagues,

Spinal Muscular Atrophy (SMA) is one of the most common genetic diseases affecting infants and children. SMA was nominated for addition to the newborn screening Recommended Uniform Screening Panel (RUSP) more than 10 years ago; however, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that prospective pilot studies be conducted by public health laboratories prior to formal evidence review. SMA was added to the RUSP in 2018, following demonstration of feasibility of high-throughput screening for the homozygous SMN1 exon 7 deletion via qPCR, and availability of an FDA-approved treatment. As of July 2020, several countries worldwide and 31 states in the US have implemented newborn screening for SMA. Many programs multiplex the SMA screen with a qPCR assay for Severe Combined Immunodeficiency (SCID). Some programs also conduct SMN2 gene copy number analysis for phenotype prediction internally, but testing is typically conducted after referral. Newborn screening programs have rapidly incorporated SMA screening, and at the same time, treatment options and algorithms continue to expand and evolve.

This special issue on Newborn Screening for Spinal Muscular Atrophy, to be published in the International Journal of Neonatal Screening, will focus on methods, algorithms and experiences following implementation of SMA newborn screening. Topics of interest include:

  • SMA newborn screening methodology and algorithms
  • Outcomes in infants identified via newborn screening
  • SMA incidence differences by region, SMN2 copy number, race/ethnicity
  • Challenges in identifying, following and treating infants with higher SMN2 copy number

Dr. Denise M. Kay
Prof. Dr. Anne Marie Comeau
Guest Editor

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Newborn screening
  • Spinal muscular atrophy (SMA)
  • SMN1 gene
  • SMN2 gene copy number

Published Papers (4 papers)

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Research

Article
Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number
Int. J. Neonatal Screen. 2021, 7(3), 47; https://doi.org/10.3390/ijns7030047 - 21 Jul 2021
Viewed by 174
Abstract
Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS). In January 2018, the New England Newborn Screening Program (NENSP) began statewide screening for SMA using a tiered algorithm looking for [...] Read more.
Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS). In January 2018, the New England Newborn Screening Program (NENSP) began statewide screening for SMA using a tiered algorithm looking for the absence of SMN1 Exon 7. When results from the first and second tier needed reconciliation, we developed and validated a third tier DNA sequencing assay to ensure the presence or absence of SMN1 Exon 7. All nine infants referred to specialty centers through NBS showed single base substitution of c.840C>T, and were confirmed to have SMA. Further, a minor sequencing protocol modification allowed the estimation of SMN2 copy number in SMA affected patients; we developed and validated a copy-number assay yielding 100% match with seven previously characterized specimens of SMA patients. All nine SMA-affected infants found through NBS were also assayed for SMN2 copy number. Results were comparable but not 100% matched with those that were reported by independent diagnostic laboratories. In conclusion, a sequencing protocol confirms NBS findings from real-time qPCR, and its modified application allows NBS programs that have sequencing capabilities to provide SMN2 copy numbers without the need for additional instrumentation. Full article
(This article belongs to the Special Issue Newborn Screening for Spinal Muscular Atrophy)
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Article
Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
Int. J. Neonatal Screen. 2021, 7(3), 33; https://doi.org/10.3390/ijns7030033 - 24 Jun 2021
Viewed by 431
Abstract
Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends [...] Read more.
Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state NBS programs to screen. ACHDNC updated the Recommended Uniform Screening Panel to include Spinal Muscular Atrophy (SMA) in July 2018. As of June 2021, 34 state NBS programs had fully implemented SMA newborn screening, and at least 8 programs were pursuing implementation. This article will review current SMA screening processes, considerations, challenges, and status. Full article
(This article belongs to the Special Issue Newborn Screening for Spinal Muscular Atrophy)
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Article
Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
Int. J. Neonatal Screen. 2021, 7(2), 26; https://doi.org/10.3390/ijns7020026 - 23 May 2021
Cited by 2 | Viewed by 897
Abstract
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by [...] Read more.
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit. Full article
(This article belongs to the Special Issue Newborn Screening for Spinal Muscular Atrophy)
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Article
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
Int. J. Neonatal Screen. 2021, 7(1), 20; https://doi.org/10.3390/ijns7010020 - 21 Mar 2021
Cited by 2 | Viewed by 1110
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Newborn Screening for Spinal Muscular Atrophy)
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