Related Experiment Video
Updated: Jun 26, 2026
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps
Iulia Coliban1, Natalia Usurelu2, Igor Opalco3
1Human Molecular Genetics Laboratory, Institute of Mother and Child, MD-2062 Chisinau, Moldova.
Insights
Newborn screening for spinal muscular atrophy (SMA) is feasible in lower-resource settings. Implementing genetic testing within existing newborn screening programs enables early diagnosis and treatment for SMA.
Area of Science:
- Genetics
- Neurology
- Public Health
Background:
- Spinal muscular atrophy (SMA) is a severe neuromuscular disorder.
- Early treatment significantly improves outcomes for SMA patients.
- Newborn screening for SMA is not uniformly implemented across Europe, necessitating data from diverse health systems.
Purpose of the Study:
- To evaluate the feasibility, diagnostic accuracy, and public health impact of implementing newborn screening for SMA in the Republic of Moldova.
- To assess the integration of genetic screening into an established national newborn screening framework.
- To provide evidence for scaling up SMA screening in lower-resource settings.
Main Methods:
- A pilot genetic screening program utilized dried blood spot (DBS) samples from routine newborn screening.
- Real-time polymerase chain reaction (qPCR) was used for initial SMN1 exon 7 deletion testing.
- Multiplex ligation-dependent probe amplification (MLPA) confirmed positive results, with operational integration assessed.
Main Results:
- Neonatal SMA screening was operationally feasible within existing DBS workflows.
- The screening demonstrated high analytical performance, comparable to international standards.
- Two cases of SMA were identified, allowing for early diagnosis and treatment initiation.
Conclusions:
- Integrating SMA screening into national newborn screening panels using DBS-based molecular methods is supported by these findings.
- The study presents a practical and resource-efficient model for introducing advanced genetic testing into public health services.
- This model can guide the scale-up of SMA screening in resource-limited health systems.
Abstract:
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder in which presymptomatic treatment substantially improves survival and motor outcomes, yet newborn screening for SMA remains unevenly implemented across Europe, and evidence from lower-resource health systems is needed to guide scale-up. In this study, we assessed the feasibility, diagnostic performance, and public health implications of implementing neonatal SMA screening in the Republic of Moldova within an established national newborn screening framework. A pilot genetic screening program was conducted using dried blood spot (DBS) samples collected through routine newborn screening workflows; SMN1 exon 7 deletion testing was performed by real-time polymerase chain reaction (qPCR), and positive findings were confirmed by multiplex ligation-dependent probe amplification (MLPA), alongside the evaluation of operational integration and system-level requirements. Screening was operationally feasible within existing DBS processes and demonstrated high analytical performance, consistent with published international experience, although performance results should be interpreted cautiously due to the limited sample size. Two SMA cases were confirmed in a small cohort, enabling early diagnosis and timely referral for disease-modifying therapy, and integration into the existing program was practical and resource-efficient. These findings support the incorporation of SMA into national newborn screening panels using DBS-based molecular methods, highlighting an implementable model for introducing advanced genetic testing within routine public health services.
