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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil
Alice Brinckmann Oliveira Netto1,2,3, Ana Carolina Brusius-Facchin3,4, Júlia F Lemos2,4,5
1Universidade Federal do Rio Grande do Sul, Programa de Pós-graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil.
Insights
This study screened 40,000 newborns for Spinal Muscular Atrophy (SMA) using routine dried blood spot samples. Four SMA cases were identified, confirming the feasibility of integrating SMA screening into Brazil's National Neonatal Screening Program.
Area of Science:
- Genetics
- Neurology
- Public Health
Background:
- Spinal muscular atrophy (SMA) is a common autosomal recessive disorder with an incidence of approximately 1 in 10,000 live births.
- Early detection and intervention in pre-symptomatic infants significantly improve treatment efficacy for SMA.
- Brazil's National Neonatal Screening Program is expanding to include more diseases, including SMA.
Purpose of the Study:
- To evaluate the feasibility of screening for Spinal Muscular Atrophy (SMA) using existing dried blood spot (DBS) samples within Brazil's National Neonatal Screening Program.
- To determine the incidence of SMA in the studied Brazilian population.
- To assess the suitability of the SALSA MC002 real-time PCR technique for SMA screening in routine neonatal screening.
Main Methods:
- Analysis of 40,000 dried blood spot (DBS) samples collected for routine neonatal screening in Brazil.
- Utilized real-time PCR with the SALSA MC002 technique for initial SMA screening.
- Confirmed positive SMA cases using Multiplex Ligation-dependent Probe Amplification (MLPA).
Main Results:
- Identified four positive cases of Spinal Muscular Atrophy (SMA) among the 40,000 samples analyzed.
- The observed incidence of SMA in this cohort is comparable to global estimates.
- The SALSA MC002 technique proved effective for SMA screening using samples from the conventional neonatal screening program.
Conclusions:
- The SALSA MC002 technique is suitable for screening Spinal Muscular Atrophy (SMA) in Brazil's existing neonatal screening infrastructure.
- Integrating SMA screening into the National Neonatal Screening Program is feasible and recommended.
- This approach supports early detection and timely treatment for SMA in newborns across Brazil.
Abstract:
Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.
