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Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective
Beatriz De Felipe1, Carmen Delgado-Pecellin1,2, Mercedes Lopez-Lobato3
1Pediatrics Infectious Diseases, Rheumatology and Immunology Unit, Institute of Biomedicine of Seville, University Hospital Vírgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain.
Insights
This pilot study evaluated early detection of Spinal Muscular Atrophy (SMA) and severe T-/B-cell lymphopenias (STBCL) in newborns using dried blood spots. While no cases were found prospectively, the reliable technique supports inclusion in newborn screening programs.
Area of Science:
- Neonatal immunology
- Rare pediatric diseases
- Genetic screening
Background:
- Spinal Muscular Atrophy (SMA) and severe T-/B-cell lymphopenias (STBCL), including Severe Combined Immunodeficiencies (SCID) and X-linked Agammaglobulinemia (XLA), are rare, life-threatening conditions.
- Early detection and intervention are critical for improving outcomes in these pediatric pathologies.
Purpose of the Study:
- To assess the efficacy of a novel early detection technique for SMA and SCID/XLA in a prospective newborn cohort.
- To evaluate the reliability and speed of RT-PCR analysis on dried blood spots (DBS) for these conditions.
Main Methods:
- Prospective collection and RT-PCR analysis of dried blood spots (DBS) from 14,035 newborns in Western Andalusia, Spain.
- Quantitative determination of TRECs and KRECs, and relative determination of SMA (positive/negative).
- Inclusion of internal and external controls for SCID, XLA, and SMA.
Main Results:
- The RT-PCR method accurately identified all control samples.
- No cases of SMA or SCID/XLA were prospectively detected in the screened newborn population.
- Retrospective analysis of symptomatic infants identified two cases each of SMA and SCID, and one XLA case, all genetically confirmed.
Conclusions:
- The applied RT-PCR technique on DBS is reliable and fast for detecting SMA and SCID/XLA.
- The study supports the integration of SMA and SCID screening into national newborn screening (NBS) programs for timely therapeutic intervention.
- Early detection via NBS can significantly improve patient prognosis and enable access to crucial supportive and curative therapies.
Abstract:
Spinal muscular atrophy (SMA) and severe T- and/or B-cell lymphopenias (STBCL) in the form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia (XLA) are rare but potentially fatal pathologies. In January 2021, we initiated the first pilot study in Spain to evaluate the efficacy of a very early detection technique for SMA and SCID. RT-PCR was performed on prospectively collected dried blood spots (DBSs) from newborns in Western Andalusia (Spain). Internal and external controls (SCID, XLA and SMA) were included. The determination of SMA was relative (positive/negative) and that of TRECs and KRECs was quantitative (copies/punch). A total of 14.035 prospective samples were analysed. All controls were correctly identified while no cases of SMA or SCID/XLA were prospectively identified. DBS analysis of infants with suspected SMA or STBCL that presented to our centre showed pathological values in two cases each for SMA and SCID and one for XLA, all of them being subsequently confirmed genetically. In this prospective pilot study, no infants with SMA or STBCL were detected; however, the technique applied here was shown to be reliable and fast, further supporting the benefits and need to include SMA and SCID in national newborn screening (NBS) programs, as it will allow early supportive and curative therapy.
