SCID Newborn Screening Performance and Outcomes in Catalonia, 2017–2023

From 2017 to 2023, this dataset summarizes the results of a severe combined immunodeficiency (SCID) newborn screening program in Catalonia, Spain, covering 420,263 screened newborns. It was authored by Ana Argudo-Ramírez and published on figshare in 2026. The data includes screening results, diagnoses, genetic defects, treatment outcomes, and incidence rates for SCID and non-SCID T-cell lymphopenia.

Use Cases

• Calculate incidence rates for SCID and non-SCID T-cell lymphopenia based on the reported screening population and case counts.
• Analyze the performance of TREC assay screening based on reported false-positive and true-positive rates.
• Model survival outcomes for SCID patients based on reported treatment modalities (e.g., hematopoietic stem cell transplantation, gene therapy) and success rates.
• Study the distribution of genetic defects associated with SCID based on the identified gene variants.
• Assess the timing of diagnosis and treatment initiation based on reported median ages.

Strengths

• Covers a substantial population of 420,263 screened newborns over a seven-year period.
• Reports specific clinical outcomes, including an 88% overall and event-free survival rate for diagnosed SCID patients.
• Provides detailed diagnostic classifications, genetic defects, and treatment modalities for confirmed cases.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The primary data format is a PDF (403.3 KB), which may require extraction to a structured format for analysis.

Provenance

Source

figshare, authored by Ana Argudo-Ramírez.

Collection Method

Data collected from the consolidated SCID newborn screening program in Catalonia, using the EnLite Neonatal TREC assay with confirmatory immunological and genetic testing.

Time Range

2017–2023

Freshness

Last updated 2026-04-16 04:19:12; freshness should be verified.

Geography

Catalonia, Spain