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First year of TREC-based national SCID screening in Sweden

Göngrich, Christina ; Ekwall, Olov ; Sundin, Mikael ; Brodszki, Nicholas LU ; Fasth, Anders ; Marits, Per ; Dysting, Sam ; Jonsson, Susanne LU ; Barbaro, Michela and Wedell, Anna , et al. (2021) In International Journal of Neonatal Screening 7(3).
Abstract

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... (More)

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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publishing date
type
Contribution to journal
publication status
published
subject
keywords
KREC, Neonatal dried blood spot screening, NPV, PPV, SCID, Sensitivity, Specificity, TREC
in
International Journal of Neonatal Screening
volume
7
issue
3
article number
59
publisher
MDPI AG
external identifiers
  • scopus:85114624297
  • pmid:34449549
ISSN
2409-515X
DOI
10.3390/ijns7030059
language
English
LU publication?
no
id
18b38f2c-1da2-4c8b-8eb9-606c67bc03b9
date added to LUP
2021-10-11 11:15:04
date last changed
2024-06-15 17:47:19
@article{18b38f2c-1da2-4c8b-8eb9-606c67bc03b9,
  abstract     = {{<p>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.</p>}},
  author       = {{Göngrich, Christina and Ekwall, Olov and Sundin, Mikael and Brodszki, Nicholas and Fasth, Anders and Marits, Per and Dysting, Sam and Jonsson, Susanne and Barbaro, Michela and Wedell, Anna and von Döbeln, Ulrika and Zetterström, Rolf H.}},
  issn         = {{2409-515X}},
  keywords     = {{KREC; Neonatal dried blood spot screening; NPV; PPV; SCID; Sensitivity; Specificity; TREC}},
  language     = {{eng}},
  number       = {{3}},
  publisher    = {{MDPI AG}},
  series       = {{International Journal of Neonatal Screening}},
  title        = {{First year of TREC-based national SCID screening in Sweden}},
  url          = {{http://dx.doi.org/10.3390/ijns7030059}},
  doi          = {{10.3390/ijns7030059}},
  volume       = {{7}},
  year         = {{2021}},
}