Publications on SMA Newborn Screening

While writing the Whitepaper, Spinal muscular atrophy: Screen at birth, save lives, we collected a list of publications on the topic of newborn screening and in some cases, specifically about newborn screening in spinal muscular atrophy. The list below has been extracted from the Whitepaper and will be updated as the Whitepaper is also updated over the course of 2021.

If you are an SMA patient group that needs access to one of these publications, email us at [email protected] and we may be able to help.


  1. https://download2.eurordis.org/documents/pdf/eurordis_nbs_position_paper.pdf. EURORDIS. 2021.
  2. https://ipopi.org/wp-content/uploads/2020/06/Call-to-Action-NBS-Screen-4-Rare.pdf. IPOPI. 2020.
  3. Principles and Practice of screening for disease. Wilson&Jungner. 1968, Public Health Papers 34.
  4. The Genetics of Spinal Muscular Atrophy: Progress and Challenges. Farrar, M. A., & Kiernan, M. C. 2015, The journal of the American Society for Experimental NeuroTherapeutics, 12(2), pp. 290–302.
  5. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. Pearn J. 1978, J Med Genet. Dec;15(6):, pp. 409-413.
  6. Spinal muscular atrophy: a timely review. Kolb, S. J., & Kissel, J. T. 2011, Arch Neurol. Aug;68(8):, pp. 979-984.
  7. Diverse role of survival motor neuron protein. Singh, R. N., Howell, M. D., Ottesen, E. W., et al. 2017, Biochim Biophys Acta Gene Regul Mech. Mar; 1860(3), pp. 299-315.
  8. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Alías, L., Bernal, S., Fuentes-Prior, et al. 2009, Hum Genet., pp. 29-39.
  9. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Feng, Y., Ge, X., Meng, L., et al. 2017, Genet. Med Aug;19(8), pp. 936-944.
  10. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Calucho, M., Bernal, S., Alías, L., et al. 2018, Neuromuscular Disorders Mar; 28 (3), pp. 208–215.
  11. Refined characterization of the expression and stability of the SMN gene products. Vitte, J., Fassier, C., Tiziano, F. D., et al. 2007, Am J Pathol. Oct;171(4), pp. 1269-1280.
  12. Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy. Cuscó, I., Bernal, S., Blasco-Pérez, L., et al. 2020, Neurol Genet. 18;6(6).
  13. Spinal muscular atrophy. D’Amico, A., Mercuri, E., Tiziano, F. D., et al. 2011, Orphanet Journal of Rare Diseases Nov 2; 6:71.
  14. Consensus statement for standard of care in spinal muscular atrophy. Wang, C. H., Finkel, R. S., Bertini, E. S., et al. 2007, J Child Neurol Aug; 22(8), pp. 1027-1049.
  15. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review. Verhaart, I., Robertson, A., Wilson, I. J., et al. 2017, Orphanet Journal of Rare Diseases Jul 4;12 (1).
  16. Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care. Schorling, D. C., Pechmann, A., & Kirschner, J. 2020, Journal of Neuromuscular Diseases 7 (1), pp. 1-13.
  17. The changing natural history of spinal muscular atrophy type 1. Oskoui, M., Levy, G., Garland, C. J., et al. 2007, Neurology 13;69(20), pp. 1931-1936.
  18. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. De Vivo, D. C., Bertini, E., Swoboda, K. J., et al. 2019, Neuromuscular Disorders Nov; 29 (11), pp. 842–856.
  19. IQWIG. Neugeborenenscreening auf 5q-assoziierte spinale Muskelatrophie Bericht Nr.891. Köln 2020 : s.n.
  20. Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives. Dangouloff, T., Servais, L. 2019, Ther Clin Risk Manag. Oct 2;15:, pp. 1153-1161.
  21. 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands. Dangouloff, T., Burghes, A., Tizzano, E. F., et al. 2020, Neuromuscular Disorders Jan; 30 (1), pp. 93-103.
  22. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Lin, C. W., Kalb, S. J., & Yeh, W. S. 2015, Pediatric Neurology Oct; 53 (4), pp. 293-300.
  23. One Year of Newborn Screening for SMA – Results of a German Pilot Project. Vill, K., Kölbel, H., Schwartz, O., et al. 2019, Journal of Neuromuscular Diseases ;6 (4), pp. 503–515.
  24. A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy. Lawton, S., Hickerton, C., Archibald, A. D., et al. 2015, European Journal of Human Genetics May; 23 (5), pp. 575–580.
  25. Newborn and carrier screening for spinal muscular atrophy. Prior, T. W., Snyder, P. J., Rink, B. D., et al. 2010, Am J Med Genet A. Jul;152A(7), pp. 1608-1616.
  26. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Kraszewski, J. N., Kay, D. M., Stevens, C. F., et al. 2018, Genet Med. Jun;20(6), pp. 608-613.
  27. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. Chien, Y. H., Chiang, S. C., Weng, W. C., et al. 2017, J Pediatr. Nov;190:, pp. 124-129.
  28. The implementation of newborn screening for spinal muscular atrophy: the Australian experience. Kariyawasam, D., Russell, J. S., Wiley, V., et al. 2020, Genet Med.Mar;22(3), pp. 557-565.
  29. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Kay, D. M., Stevens, C. F., Parker, A., et al. 2020, Genet Med. Aug;22(8):, pp. 1296-1302.
  30. CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening. Weng, W. C., Hsu, Y. K., Chang, F. M., et al. 2020, Genet Med. Oct 9.
  31. Newborn screening for SMA in Southern Belgium. Boemer, F., Caberg, J. H., Dideberg, V., et al. 2019, Neuromuscular Disorders May; 29 (5), pp. 343–349.
  32. Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry. Lin, Y., Lin, C. H., Yin, X., et al. 2019, Front Genet. Dec 17;10:1255.
  33. Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population. Boardman F. K., Sadler C, Young PJ. 2018, Molecular Genetics & Genomic Medicine Jan; 6 (1), pp. 99–108.
  34. Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy. Boardman, F. K., Young, P. J., & Griffiths, F. E. 2018, J Genet Counsel Feb; 27 (1), pp. 69–84.
  35. Newborn screening for spinal muscular atrophy: The views of affected families and adults. Boardman, F. K., Young, P. J., & Griffiths, F. E. 2017, Am J Med Genet A. Jun;173(6):, pp. 1546-1561.
  36. Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors. Serra-Juhe, C., & Tizzano, E. F. 2019, Eur J Hum Genet. Dec;27(12), pp. 1774-1782.
  37. Request Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Mercuri, E., Finkel, R. S., Muntoni, F., et al. 2018, Neuromuscular Disorders Feb; 28 (2), pp. 103-115.
  38. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Finkel, R. S., Mercuri, E., Meyer, O. H., et al. 2018, Neuromuscul Disord. Mar;28 (3), pp. 197-207.
  39. Natural history of infantile-onset spinal muscular atrophy. Kolb, S. J., Coffey, C. S., Yankey, J. W., et al. 2017, Ann Neurol Dec; 82(6), pp. 883-891.
  40. Observational study of spinal muscular atrophy type I and implications for clinical trials. Finkel, R. S., McDermott, M. P., Kaufmann, P.,et al. 2014, Neurology. Aug 26;83(9), pp. 810-817.
  41. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. Glascock, J., Sampson, J., Connolly, A.M., et al. 2020, J Neuromuscul Dis.; 7(2):97-100.
  42. Disease burden of spinal muscular atrophy in Germany. Klug, C., Schreiber-Katz, O., Thiele, S., et al. 2016, Orphanet Journal of Rare Diseases May 4; 11 (1):58.
  43. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. López-Bastida, J., Peña-Longobardo, L. M., Aranda-Reneo, I., et al. 2017, Orphanet journal of rare diseases, 12(1), 141.
  44. The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe. Peña-Longobardo, L. M., Aranda-Reneo, I., Oliva-Moreno, J., et al. 2020, International journal of environmental research and public health, 17(16), 5640.
  45. U.S. newborn screening policy dilemmas for the twenty-first century. Therrell BL. 2001, Mol Genet Metab. Sep-Oct;74(1-2):, pp. 64-74.
  46. European Union Should Actively Stimulate and Harmonise Neonatal Screening Initiatives. Loeber, J. G. 2018, International Journal of Neonatal Screening Nov 14; 4 (4).
  47. Short executive summary of the report on the practices of newborn screening for rare disorders in member states of the European Union, candidate and potential candidate, and EFTA countries. Burgard, P., Cornel, M.C., Di Filippo, et al. 2011, http://www.isns-neoscreening.org/wp-content/uploads/2016/06/Summary20111018.pdf.
  48. Newborn screening in Europe; expert opinion document. Cornel, M.C., Rigter, T., Weinreich, S.S., et al. 2011, https://www.isns-neoscreening.org/wp-content/uploads/2018/11/Expert-opinion-document-on-NBS-FINAL.pdf.
  49. Neonatal screening in Europe revisited; an ISNS-perspective on the current state and developments since 2010. Loeber, J. G., Platis, D., Zetterström, R. H., et al. 2021, Int J Neonatal Screen. 7(1), 15.
  50. Informing parents about newborn screening: a European comparison study. Ijzebrink, A., van Dijk, T., Franková, V., et al. 2021, Int J Neonatal Screen.(in press).
  51. Blood collection on filter paper for newborn screening programs; approved standard-sixth edition. CLSI. 2013, CLSI document NBS01-A6. Clinical and Laboratory Standards Institute.
  52. Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. Taylor, J. L., Lee, F. K., Yazdanpanah, G. K.,et al. 2015, Clin Chem.; 61(2), pp. 412-419.
  53. Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy. Pyatt, R. E., Mihal, D. C., & Prior, T. W. 2007, Clin Chem. Nov;53(11), pp. 1879-85.
  54. Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. Dobrowolski, S. F., Pham, H. T., Downes, F. P., et al. 2012, Clin Chem. Jun; 58(6):, pp. 1033-1039.
  55. SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test. Kato, N., Sa’Adah, N., Ar Rochmah, M., et al. 2015, Kobe J Med Sci. Jan 19;60(4):, pp. E78-85.
  56. An innovative SMA screening method directly from dried blood spots. Vandermeulen, C., Giltay, A., Detemmerman, L. 2020, 6. Int J Neonatal Screen https://www.mdpi.com/2409-515X/6/1/12/htm.
  57. Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA. Gutierrez-Mateo, C., Timonen, A., Vaahtera, K., et al. 2019, Int J Neonatal Screen. Nov 2;5(4):, p. 39.
  58. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy. Vidal-Folch, N., Gavrilov, D., Raymond, K., et al. 2018, Clin Chem. Dec;64(12), pp. 1753-1761.
  59. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Kirschner, J., Butoianu, N., Goemans, N., et al. 2020, Eur J Paediatr Neurol. Sep;28:., pp. 38-43.
  60. Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy. Jędrzejowska, M. 2020, Degener Neurol Neuromuscul Dis. Dec 15;10:, pp. 39-47.
  61. American College of Medical Genetics’ Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system. ACMG. 2006, Genet Med.;8 (suppl 1):1S-252S.
  62. Whole genome sequencing and newborn screening. Botkin, J. R., & Rothwell, E. 2016, Curr Genet Med Rep. Mar 1; 4 (1), pp. 1-6.
  63. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Peeters, K., Chamova, T., & Jordanova, A. 2014, Brain Nov; 137 (Pt11), pp. 2879-96.
  64. Pharmacoeconomics: NICE’s approach to decision-making. Rawlins, M., Barnett, D., & Stevens, A. 2010, Br J Clin Pharmacol. Sep; 70(3):, pp. 346–349.
  65. Determining the value of medical technologies to treat ultra-rare disorders: a consensus statement. Schlander, M., Garattini, S., Kolominsky-Rabas, P., et al. 2016, J Mark Access Health Policy.
  66. Do payers value rarity? An analysis of the relationship between disease rarity and orphan drug prices in Europe. Medic, G., Korchagina, D., Young, K. E., et al. 2017, J Mark Access Health Policy Apr 10;5(1).
  67. A cost-effectiveness analysis of newborn screening for severe combined immunodeficiency in the UK. Bessey, A., Chilcott, J., Leaviss, J., et al. 2019, Internat. Journal Neonatal Screen. Aug 30; 5 (3).
  68. Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data. van der Ploeg, C. P., van den Akker-van Marle, M. E., Vernooij-van Langen, A. M., et al. 2015, J Cyst Fibros Mar; 14 (2), pp. 194-202.
  69. Cost-effectiveness of newborn screening for severe combined immunodeficiency. van der Ploeg, C. P., Blom, M., Bredius, R.G.M., et al. 2019, Eur J Pediatr May; 178 (5), pp. 721-729.
  70. Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. Vallejo-Torres, L., Castilla, I., Couce, M. L., et al. 2015, Pediatrics Aug; 136 (2), pp. 424-432.
  71. Cost-effectiveness of nusinersen and universal newborns screening for spinal muscular atrophy. Jalali, A., Rothwell, E., Botkin, J. R., et al. 2020, J Pediatr Dec; 227, pp. 274-280.
  72. https://www.g-ba.de/presse/pressemitteilungen-meldungen/919/. GBA. 2020.
  73. https://www.healthcouncil.nl/documents/advisory-reports/2019/07/23/neonatal-screening-for-spinal-muscular-atrophy. NL, Health Council. 2019.
  74. A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study. Shinohara, M., Niba, E., Wijaya, Y., et al. 2019, Int J Neonatal Screen. Nov 12;5(4):41.