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[First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in
Ana Argudo Ramírez1, Andrea Martín Nalda2, José Luis Marín Soria1
1Sección de Errores Congénitos del Metabolismo-IBC. Servicio de Bioquímica y Genética Molecular. Centro de Diagnóstico Biomédico. Hospital Clínic. Barcelona. España.
Insights
Newborn screening for severe combined immunodeficiency (SCID) using T-cell receptor excision circles (TREC) in dried blood spots is effective. Early SCID detection improves patient outcomes and survival rates.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe combined immunodeficiency (SCID) is a critical T-cell disorder requiring early diagnosis.
- Newborn screening for SCID enables timely treatment, improving life expectancy.
- Catalonia pioneered universal newborn screening for SCID in January 2017.
Purpose of the Study:
- To evaluate the initial results of the universal newborn screening program for SCID in Catalonia.
- To determine the incidence of SCID and other T-cell lymphopenias in the screened population.
- To assess the effectiveness of T-cell receptor excision circles (TREC) testing in dried blood spots for SCID detection.
Main Methods:
- Quantification of T-cell receptor excision circles (TREC) in dried blood spot (DBS) samples from newborns.
- Utilized the EnLite Neonatal TREC kit with a cutoff of 20 copies/µL.
- Follow-up of newborns with positive screening results, including lymphocyte counts and TREC normalization.
Main Results:
- Screened 222,857 newborns; 48 tested positive.
- Diagnosed three cases of SCID (incidence 1:74,285).
- Identified 17 cases of non-SCID T-cell lymphopenia (incidence 1:13,109), 22 false positives, and 1 transient lymphopenia case.
Conclusions:
- Newborn screening for SCID using TREC analysis in DBS is beneficial for early detection and improved patient outcomes.
- The incidence of SCID in Catalonia was established at 1:74,285.
- Continued follow-up is necessary to refine SCID incidence data and confirm long-term outcomes.
Abstract:
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TREC) in dried blood spot (DBS) samples. Early detection of this condition speeds up the establishment of appropriate treatment and increases the patient's life expectancy. Newborn screening for SCID started in January 2017 in Catalonia, the first Spanish and European region to universally include this testing. The results obtained in the first three years and a half of experience (January 2017 - June 2020) are shown here, using EnLite Neonatal TREC kit (Perkin Elmer) with 20 copies/µL as TREC detection cutoff. Of 222,857 newborns screened, 48 tested positive: three patients were diagnosed with SCID (incidence 1:74,285); 17 patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 13,109 newborns; twenty two patients were considered false-positive cases because of an initially normal lymphocyte count with normalization of TREC between 3 and 6 months of life; one case had transient lymphopenia due to an initially low lymphocyte count with recovery in the following months; and five patients are still under study. The results obtained provide further evidence of the benefits of including this disease in newborn screening programs. Even longer follow-up could be necessary to define the exact incidence of SCID in Catalonia.
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