Key result
Qualitative real-time PCR approaches for SMA newborn screening, including presence/absence and melt curve protocols, achieved 100% accuracy using dried blood spots.
Why the study?
No work had compared different methodologies along with detailed implementation costs for centers where neonatal screening of SMA has not yet been implemented.
What is the accuracy and estimated cost of different real-time PCR methodologies for newborn screening of 5q Spinal Muscular Atrophy?
What is the accuracy and estimated cost of different real-time PCR methodologies for newborn screening of 5q Spinal Muscular Atrophy?
Real-time PCR methodologies (P/A and melt curve) demonstrate 100% accuracy for SMA newborn screening with variable implementation costs, providing a framework for future screening programs.
Answers are grounded in this paper and cite their sources.
May support accessible SMA newborn screening on DBS; leaves open larger validation before routine adoption.
homozygous deletion in a neonatal context have been published. However, no work has compared different methodologies along with detailed implementation costs for centers where the neonatal screening of SMA has not yet been implemented. Therefore, our work compared different qualitative real-time PCR approaches for SMA screening and the estimated costs of test implementation. Using Brazilian blood samples, the presence and absence (P/A) and melt curve protocols were analyzed. MLPA was used as a confirmatory test. The costs were calculated for the simplex and multiplex tests plus equipment. The test workflow was based on the present experience and literature report. The accuracy of the P/A protocol was 1 (95% CI 0.8677-1) using dried blood spots (DBS). The melt curve protocol also achieved 100% concordance. The consumable costs ranged from USD 1.68 to 4.42 and from USD 2.04 to 12.76 per reaction, for the simplex and multiplex tests, respectively. The equipment acquisition costs ranged from USD 44,817.07 to 467,253.10, with several factors influencing this value presented. Our work presents a framework for decision-making, with a project demonstration of the different assays that will be useful in dealing with the issues of cost and availability of reagents. Moreover, we present a literature review and discussion of important concerns regarding treatment policies. We take the first step towards a future SMA NBS pilot program where it is not yet a reality.
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Tavares et al. (2021) studied 5q Spinal Muscular Atrophy. Qualitative real-time PCR (presence/absence and melt curve protocols) vs. Multiplex ligation-dependent probe amplification (MLPA) was evaluated on Accuracy of the presence and absence (P/A) protocol (95% CI 0.8677-1). Qualitative real-time PCR approaches for SMA newborn screening, including presence/absence and melt curve protocols, achieved 100% accuracy using dried blood spots.
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