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      TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review

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          Abstract

          Background

          Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) in neonatal dried blood spots (DBS) enables early diagnosis of severe combined immunodeficiency disease (SCID). In recent years, different screening algorithms for TREC based SCID screening were reported.

          Purpose

          To systematically review the diagnostic performance of published algorithms for TREC based NBS for SCID.

          Methods

          PubMed, EMBASE and the Cochrane Library were systematically searched for case series and prospective cohort studies describing TREC based NBS for SCID. We extracted TREC content and cut-off values, number of retests, repeat DBS and referrals, and type and number of typical SCID and other T cell lymphopenia (TCL) cases. We calculated positive predictive value (PPV), test sensitivity and SCID incidence.

          Results

          Thirteen studies were included, re-confirming 89 known SCID cases in case series and reporting 53 new SCID cases in 3.15 million newborns. In case series, the sensitivity for typical SCID was 100 %. In the prospective cohort studies, SCID incidence was ~1.7:100,000, re-test rate was 0.20–3.26 %, repeat DBS rate 0.0–0.41 % and referral rate 0.01–1.35 %. PPV within the five largest cohorts was 0.8–11.2 % for SCID and 18.3–81.0 % for TCL. Individual TREC contents in all SCID patients was <25 TRECs/μl (except in those evaluated with the New York State assay).

          Conclusions

          The sensitivity of TREC based NBS for typical SCID was 100 %. The TREC cut-off score determines the percentage of non-SCID TCL cases detected in newborn screening for TCL. Adapting the screening algorithm for pre-term/ill infants reduces the amount of false positive test results.

          Electronic supplementary material

          The online version of this article (doi:10.1007/s10875-015-0152-6) contains supplementary material, which is available to authorized users.

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          Most cited references31

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          Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. Standards for Reporting of Diagnostic Accuracy.

          Jeroen G Lijmer, Henrica de Vet, Johannes Reitsma … (2002)
          To comprehend the results of diagnostic accuracy studies, readers must understand the design, conduct, analysis, and results of such studies. That goal can be achieved only through complete transparency from authors. To improve the accuracy and completeness of reporting of studies of diagnostic accuracy to allow readers to assess the potential for bias in the study and to evaluate its generalisability. The Standards for Reporting of Diagnostic Accuracy (STARD) steering committee searched the literature to identify publications on the appropriate conduct and reporting of diagnostic studies and extracted potential items into an extensive list. Researchers, editors, and members of professional organisations shortened this list during a two-day consensus meeting with the goal of developing a checklist and a generic flow diagram for studies of diagnostic accuracy. The search for published guidelines on diagnostic research yielded 33 previously published checklists, from which we extracted a list of 75 potential items. The consensus meeting shortened the list to 25 items, using evidence on bias whenever available. A prototypical flow diagram provides information about the method of patient recruitment, the order of test execution and the numbers of patients undergoing the test under evaluation, the reference standard or both. Evaluation of research depends on complete and accurate reporting. If medical journals adopt the checklist and the flow diagram, the quality of reporting of studies of diagnostic accuracy should improve to the advantage of clinicians, researchers, reviewers, journals, and the public.
          Article 0 comments Cited 127 times – based on 0 reviews     Review now
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            Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.

            Rebecca Buckley, Richard I. Schiff, Sherrie E. Schiff … (1997)
            To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive characteristics of the particular genotypes. The demographic, genetic, and immunologic features of 108 infants with SCID who were treated consecutively at Duke University Medical Center were analyzed. Eighty-nine subjects were boys and 19 were girls; there were 84 white infants, 16 black infants, and 8 Hispanic infants. Forty-nine had X-linked SCID with mutations of common cytokine receptor gamma chain (gamma c), 16 had adenosine deaminase (ADA) deficiency, 8 had Janus kinase 3 (Jak3) deficiency, 21 had unknown autosomal recessive mutations, 1 had reticular dysgenesis, 1 had cartilage hair hypoplasia, and 12 (all boys) had SCID of undetermined type. Deficiency of ADA caused the most profound lymphopenia; gamma c or Jak3 deficiency resulted in the most B cells and fewest natural killer (NK) cells; NK cells and function were highest in autosomal recessive and unknown types of SCID. Different SCID genotypes are associated with distinctive lymphocyte characteristics. The presence of NK function in ADA-deficient, autosomal recessive, and unknown type SCIDs, and low NK function in a majority of gamma c and Jak3 SCIDs indicates that some molecular lesions affect T, B, and NK cells (gamma c and Jak3), others primarily T cells (ADA deficiency), and others just T and B cells.
            Article 0 comments Cited 57 times – based on 0 reviews     Review now
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              Statewide newborn screening for severe T-cell lymphopenia.

              W Grossman, James Verbsky, John Routes … (2009)
              A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality. To determine if quantitating T-cell receptor excision circles (TRECs) using real-time quantitative polymerase chain reaction on DNA extracted from dried blood spots on NBS cards can detect infants with T-cell lymphopenia in a statewide program. Between January 1 and December 31, 2008, the Wisconsin State Laboratory of Hygiene screened all infants born in Wisconsin for T-cell lymphopenia by quantitating the number of TRECs contained in a 3.2-mm punch (approximately 3 microL of whole blood) of the NBS card. Flow cytometry to enumerate the number of T cells was performed on full-term infants and preterm infants when they reached the equivalent of at least 37 weeks' gestation with TREC values of less than 25/microL. Infants with T-cell lymphopenia were evaluated by a clinical immunologist. The number of infants with TREC values of less than 25/microL with T-cell lymphopenia confirmed by flow cytometry. Exactly 71,000 infants were screened by the TREC assay. Seventeen infants aged at least 37 weeks' gestation had at least 1 abnormal TREC assay (TREC values < 25/microL), 11 of whom had samples analyzed by flow cytometry to enumerate T cells. Eight infants demonstrated T-cell lymphopenia. The causes of the T-cell lymphopenia included DiGeorge syndrome (n = 2), idiopathic T-cell lymphopenia (n = 2), extravascular extravasation of lymphocytes (n = 3), and a Rac2 mutation (n = 1). The infant with the Rac2 mutation underwent successful cord blood transplantation. In a statewide screening program, use of the TREC assay performed on NBS cards was able to identify infants with T-cell lymphopenia.
              Article 0 comments Cited 45 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Joris M. van Montfrans: +31 (0)88 755 4003 , j.vanmontfrans@umcutrecht.nl
                Journal
                Journal ID (nlm-ta): J Clin Immunol
                Journal ID (iso-abbrev): J. Clin. Immunol
                Title: Journal of Clinical Immunology
                Publisher: Springer US (New York )
                ISSN (Print): 0271-9142
                ISSN (Electronic): 1573-2592
                Publication date (Electronic): 17 April 2015
                Publication date PMC-release: 17 April 2015
                Publication date (Print): 2015
                Volume: 35
                Issue: 4
                Pages: 416-430
                Affiliations
                [ ]Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Lundlaan 6, PO Box 85090, 3508 AB Utrecht, The Netherlands
                [ ]Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands
                [ ]Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
                Article
                Publisher ID: 152
                DOI: 10.1007/s10875-015-0152-6
                PMC ID: 4438204
                PubMed ID: 25893636
                SO-VID: b0d7200c-20cf-4463-92ef-ce32e993b0b8
                Copyright © © The Author(s) 2015
                License:

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.

                History
                Date received : 2 February 2015
                Date accepted : 16 March 2015
                Categories
                Subject: Original Research
                Custom metadata
                issue-copyright-statement © Springer Science+Business Media New York 2015

                ScienceOpen disciplines: Immunology
                Keywords: severe combined immunodeficiency,t-cell lymphopenia,newborn screening,t-cell receptor excisions circles,screening algorithm,systematic review
                Data availability:
                ScienceOpen disciplines: Immunology
                Keywords: severe combined immunodeficiency, t-cell lymphopenia, newborn screening, t-cell receptor excisions circles, screening algorithm, systematic review

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