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Article

Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program

by
Madalina Cristina Leanca
1,2,†,
Gelu Onose
1,3,†,
Georgiana Nicolae
1,2,
Elena Neagu
2,
Daniela Vasile
2,
Ecaterina Bercu
2,
Oana Mirabela Balanescu
2,
Andrei Capitanescu
4,
Constantin Munteanu
3,5,*,
Cristina Popescu
1,3,* and
Andrada Mirea
1,2
1
Faculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, Romania
2
Genetics Laboratory, National University Center for Children Neurorehabilitation “Robanescu-Padure”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
3
Teaching Emergency Hospital “Bagdasar-Arseni”, 12 Berceni Avenue, 041915 Bucharest, Romania
4
Children’s Emergency Clinical Hospital “Maria Sklodowska Curie”, 20 Constantin Brancoveanu, 075534 Bucharest, Romania
5
Department of Biomedical Sciences, Faculty of Medical Bioengineering, University of Medicine and Pharmacy “Grigore T. Popa”, 700454 Iasi, Romania
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Int. J. Neonatal Screen. 2026, 12(1), 6; https://doi.org/10.3390/ijns12010006 (registering DOI)
Submission received: 3 December 2025 / Revised: 29 December 2025 / Accepted: 21 January 2026 / Published: 1 February 2026
Review Reports Versions Notes

Abstract

Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by bi-allelic deletions or pathogenic SMN1 variants. Early diagnosis through neonatal screening is essential for timely therapeutic intervention, significantly improving clinical outcomes. In August 2022, a pilot neonatal screening program for SMA was launched in Romania, aiming to assess feasibility and impact. Objectives are to present the preliminary results of the ongoing SMA neonatal screening pilot program in Romania, evaluating its effectiveness in early detection and referral for treatment. The program started in August 2022 with four maternity hospitals and has progressively expanded to 28 maternity hospitals nationwide. Dried blood spot samples from newborns were analyzed for SMN1 gene deletions using real-time PCR. Positive results were confirmed through genetic testing, and affected infants, along with their families, were referred for further medical evaluation and early therapeutic intervention. Approximately 60,000 newborns have been screened since the program’s inception, and 12 newborns tested positive for SMN1 deletions, resulting in an estimated incidence rate of 1 in 5125 live births. All confirmed cases were promptly referred for specialized care, with early access to disease-modifying therapies. The program has faced challenges in logistics, parental awareness, and equitable access to treatment, but its expansion from 4 to 28 maternities demonstrates increasing feasibility, suitability, and acceptance. Conclusions: The Romanian pilot neonatal screening program for SMA has successfully identified affected infants early, proving its feasibility and clinical impact. The ongoing expansion suggests a strong foundation for a future national program, which could significantly improve early SMA diagnosis and patient outcomes in Romania.
Keywords: neonatal screening; spinal muscular atrophy; Romanian pilot program; genetic testing; early diagnosis neonatal screening; spinal muscular atrophy; Romanian pilot program; genetic testing; early diagnosis

Share and Cite

MDPI and ACS Style

Leanca, M.C.; Onose, G.; Nicolae, G.; Neagu, E.; Vasile, D.; Bercu, E.; Balanescu, O.M.; Capitanescu, A.; Munteanu, C.; Popescu, C.; et al. Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program. Int. J. Neonatal Screen. 2026, 12, 6. https://doi.org/10.3390/ijns12010006

AMA Style

Leanca MC, Onose G, Nicolae G, Neagu E, Vasile D, Bercu E, Balanescu OM, Capitanescu A, Munteanu C, Popescu C, et al. Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program. International Journal of Neonatal Screening. 2026; 12(1):6. https://doi.org/10.3390/ijns12010006

Chicago/Turabian Style

Leanca, Madalina Cristina, Gelu Onose, Georgiana Nicolae, Elena Neagu, Daniela Vasile, Ecaterina Bercu, Oana Mirabela Balanescu, Andrei Capitanescu, Constantin Munteanu, Cristina Popescu, and et al. 2026. "Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program" International Journal of Neonatal Screening 12, no. 1: 6. https://doi.org/10.3390/ijns12010006

APA Style

Leanca, M. C., Onose, G., Nicolae, G., Neagu, E., Vasile, D., Bercu, E., Balanescu, O. M., Capitanescu, A., Munteanu, C., Popescu, C., & Mirea, A. (2026). Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program. International Journal of Neonatal Screening, 12(1), 6. https://doi.org/10.3390/ijns12010006

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