Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation

Figures

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  Figure A1. First-tier timeliness indicators across the state of São Paulo, including the city of São Paulo (n = 183,046), Campinas (n = 10,274), and Ribeirão Preto (n = 1394). (a) DBS sampling; (b) DBS receipt at the NBS center; and (c) screening results by real-time PCR. Boxplots depict the median and interquartile range (IQR), with whiskers extending to 1.5 × IQR. Pairwise nonparametric bootstrap comparisons of median times demonstrated statistically significant differences across all centers (bootstrap p < 0.001). Differences in DBS sampling time between São Paulo and Campinas were minimal, whereas Ribeirão Preto showed longer sampling times than both centers. Shorter turnaround times were consistently observed in the city of São Paulo for DBS receipt (2.75–3.67 days shorter) and real-time PCR result reporting (1.38–3.06 days shorter) compared with Campinas and Ribeirão Preto.

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  Figure 1. Timeliness key performance indicators. (a) First-tier screening by real-time PCR (n = 194,714). (b) Confirmatory testing by MLPA (n = 13); patient 6 was excluded due to diagnosis prior to the screening program. Boxplots show the median and interquartile range (IQR), with whiskers extending to 1.5 × IQR.

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  Figure 2. Patient-level timeline of 5q-SMA identification and clinical management. Vertical lines represent the median timing of each step in days of life (DoL): 11 DoL for first-tier result reporting (light blue), 17 DoL for the first clinical evaluation (dashed light gray), 25 DoL for confirmatory result reporting (blue), 28 DoL for disease-modifying therapy (DMT) initiation (magenta), and 29 DoL for the second clinical evaluation (dashed gray). Data from Patient 6 were excluded from all median calculations.

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  Figure 3. Change in CHOP-INTEND score between the first and second clinical evaluations. Lines represent individual patients and are color-coded according to the direction of change. Asterisks indicate clinically meaningful changes (≥4 points) [27]. Triangles indicate patients who initiated DMT at the first evaluation.