Key result
Neonatal PCR screening identifies a 5q-SMA incidence of ~1 in 11,400 live births.
Why the study?
Neonatal screening for spinal muscular atrophy is recommended due to available therapies with greater early efficacy, but regional incidence data to plan implementation in Brazil were needed.
What is the incidence of 5q-SMA in Brazilian newborns identified via neonatal screening?
Cross-Sectional (n=80,000)
Yes
What is the incidence of 5q-SMA in Brazilian newborns identified via neonatal screening?
Neonatal screening in Brazil identified an incidence of 5q-SMA of 1 in 11,428 live births, providing fundamental data for planning national screening implementation.
Provides foundational epidemiological data to guide national screening implementation; leaves open the long-term clinical and.
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 the present study, dried blood spot samples collected by the Reference Services of Neonatal Screening of the Brazilian states of Rio Grande do Sul, Sao Paulo, Mato Grosso and Bahia to perform the routine NBS panel were also screened for 5q-SMA, using real-time PCR (SALSA MC002 technique). In this study, samples from 80,000 newborns were analyzed, enabling the identification of 7 5q-SMA cases, which were confirmed by multiplex ligation-dependent probe amplification (MLPA). Considering our findings, Brazil has an incidence of 5q-SMA of 1 in 11,428 live births. This work expands regional knowledge about the incidence of SMA and is fundamental for planning the implementation of screening for this condition in Brazil.
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Netto et al. (2026) conducted a cross-sectional in Spinal muscular atrophy (n=80,000). Neonatal screening for 5q-SMA using real-time PCR was evaluated on Incidence of 5q-SMA. Neonatal screening of 80,000 newborns in Brazil using real-time PCR identified 7 cases of 5q-SMA, establishing an incidence of 1 in 11,428 live births.
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