First Year of TREC-Based National SCID Screening in Sweden

International Journal of Neonatal Screening - Tập 7 Số 3 - Trang 59
Christina Göngrich1,2, Olov Ekwall3,4, Mikael Sundin5,6, Nicholas Brodszki7, Anders Fasth3, Per Marits8,5, Sam Dysting1, Susanne Jönsson1, Michela Barbaro1,2, Anna Wedell1,2, Ulrika von Döbeln1,9, Rolf Zetterström1,2
1Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden
2Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176, Stockholm, Sweden
3Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy at University of Gothenburg, 40530 Gothenburg, Sweden
4Department of Rheumatology and Inflammation Research, The Sahlgrenska Academy at University of Gothenburg, 40530 Gothenburg, Sweden
5Department of Clinical Science, Intervention and Technology, Karolinska Institutet, 17177 Stockholm, Sweden
6Section of Pediatric Hematology, Immunology and HCT, Astrid Lindgren Children's Hospital, Karolinska University Hospital, 14186 Stockholm, Sweden
7Department of Pediatric Immunology, Children's Hospital, Lund University Hospital, 22242 Lund, Sweden
8Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, 14186 Stockholm, Sweden
9Department of Medical Biochemistry and Biophysics, Division of Molecular Metabolism, Karolinska Institutet, 17177 Stockholm, Sweden

Tóm tắt

Screening for severe combined immunodeficiency (SCID) was introduced into the Swedish newborn screening program in August 2019 and here we report the results of the first year. T cell receptor excision circles (TRECs), kappa-deleting element excision circles (KRECs), and actin beta (ACTB) levels were quantitated by multiplex qPCR from dried blood spots (DBS) of 115,786 newborns and children up to two years of age, as an approximation of the number of recently formed T and B cells and sample quality, respectively. Based on low TREC levels, 73 children were referred for clinical assessment which led to the diagnosis of T cell lymphopenia in 21 children. Of these, three were diagnosed with SCID. The screening performance for SCID as the outcome was sensitivity 100%, specificity 99.94%, positive predictive value (PPV) 4.11%, and negative predictive value (NPV) 100%. For the outcome T cell lymphopenia, PPV was 28.77%, and specificity was 99.95%. Based on the first year of screening, the incidence of SCID in the Swedish population was estimated to be 1:38,500 newborns.

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International Journal of Neonatal Screening

Tập 7 Số 3

59

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