Diagnostic accuracy of TRECs in newborn screening for severe combined immunodeficiency: a meta-analysis_Chinese Journal of Evidence-Based Medicine

Authors：

TANG Liang , PAN Mengwen , CUI Qiliang ,  WU Fan

Department of Neonatology, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, P. R. China;

Corresponding author：

WU Fan, Email: gdwufan@126.com

Keywords：

Severe combined immunodeficiency; TRECs; Neonatal screening; Meta-analysis; Systematic review

DOI：

10.7507/1672-2531.202302019

Video：

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Objective To systematically review the accuracy of T-cell receptor excision circles (TRECs) in screening newborns for severe combined immunodeficiency (SCID). Methods The PubMed, EMbase, Cochrane Library, Web of Science, CBM, WanFang Data and CNKI databases were electronically searched to collect the diagnostic accuracy studies related to the objects from inception to October 26, 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias of the included studies using the QUADAS-2 scale. Meta-analysis was performed using Stata 15.0 and Meta-Disc 1.4 software. Results A total of 18 studies involving 6 243 718 neonates were included. The results of meta-analysis showed that the pooled sensitivity (SEN), specificity (SPE), positive likelihood ratio (PLR), negative likelihood ratio (NLR), and diagnosis odds ratio (DOR) were 0.97 (95%CI 0.92 to 0.99), 1.00 (95%CI 1.00 to 1.00), 1447.05 (95%CI 528.49 to 3962.11), 0.13 (95%CI 0.08 to 0.22) and 11698.21 (95%CI 2853.44 to 47958.98), respectively. The area under the summary receiver operating characteristic curve (SROC) was 0.97. Conclusion The application of TRECs in screening neonatal SCID has high accuracy, which is helpful for early diagnosis of SCID. Due to the limited quality and quantity of the included studies, more high-quality studies are needed to verify the above conclusion.

Citation： TANG Liang, PAN Mengwen, CUI Qiliang, WU Fan. Diagnostic accuracy of TRECs in newborn screening for severe combined immunodeficiency: a meta-analysis. Chinese Journal of Evidence-Based Medicine, 2023, 23(6): 665-671. doi: 10.7507/1672-2531.202302019 Copy

1.	Quinn J, Orange JS, Modell V, et al. The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives one at a time. Immunol Res, 2020, 68(1): 48-53.
2.	Fazlollahi MR, Pourpak Z, Hamidieh AA, et al. Clinical, laboratory, and molecular findings for 63 patients with severe combined immunodeficiency: a decade´s experience. J Investig Allergol Clin Immunol, 2017, 27(5): 299-304.
3.	Thomas C, Hubert G, Catteau A, et al. Review: why screen for severe combined immunodeficiency disease. Arch Pediatr, 2020, 27(8): 485-489.
4.	Yao CM, Han XH, Zhang YD, et al. Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011). J Clin Immunol, 2013, 33(3): 526-539.
5.	Dvorak CC, Cowan MJ, Logan BR, et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol, 2013, 33(7): 1156-1164.
6.	Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med, 2014, 371(5): 434-446.
7.	Hardin O, Lokhnygina Y, Buckley RH. Long-term clinical outcomes of severe combined immunodeficiency patients given nonablative marrow transplants. J Allergy Clin Immunol Pract, 2022, 10(4): 1077-1083.
8.	Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol, 2005, 115(2): 391-398.
9.	Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA, 2014, 312(7): 729-738.
10.	Whiting PF, Rutjes AW, Westwood ME, et al. QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann Intern Med, 2011, 155(8): 529-536.
11.	Chan SB, Zhong Y, Lim SCJ, et al. Implementation of universal newborn screening for severe combined immunodeficiency in Singapore while continuing routine bacille-calmette-guerin vaccination given at birth. Front Immunol, 2022, 12: 794221.
12.	Wakamatsu M, Kojima D, Muramatsu H, et al. TREC/KREC newborn screening followed by next-generation sequencing for severe combined immunodeficiency in Japan. J Clin Immunol, 2022, 42(8): 1696-1707.
13.	Hale JE, Platt CD, Bonilla FA, et al. Ten years of newborn screening for severe combined immunodeficiency (SCID) in Massachusetts. J Allergy Clin Immunol Pract, 2021, 9(5): 2060-2067.
14.	Kutlug S, Karadag AM, Hancioglu G, et al. Multiplex PCR-based newborn screening for severe T and B-cell lymphopenia: the first pilot study in Turkey. Sisli Etfal Hastan Tip Bul, 2021, 55(4): 551-559.
15.	Thorsen J, Kolbert K, Joshi A, et al. Newborn screening for severe combined immunodeficiency: 10-year experience at a single referral center (2009-2018). J Clin Immunol, 2021, 41(3): 595-602.
16.	Göngrich C, Ekwall O, Sundin M, et al. First year of TREC-based national SCID screening in Sweden. Int J Neonatal Screen, 2021, 7(3): 59.
17.	Argudo-Ramírez A, Martín-Nalda A, González de Aledo-Castillo JM, et al. Newborn screening for SCID. experience in Spain (Catalonia). Int J Neonatal Screen, 2021, 7(3): 46.
18.	Giżewska M, Durda K, Winter T, et al. Newborn screening for SCID and other severe primary immunodeficiency in the Polish-German transborder area: experience from the first 14 months of collaboration. Front Immunol, 2020, 11: 1948.
19.	Thomas C, Durand-Zaleski I, Frenkiel J, et al. Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clin Immunol, 2019, 202: 33-39.
20.	Amatuni GS, Currier RJ, Church JA, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010-2017. Pediatrics, 2019, 143(2): e20182300.
21.	Al-Mousa H, Al-Dakheel G, Jabr A, et al. High incidence of severe combined immunodeficiency disease in Saudi Arabia detected through combined T cell receptor excision circle and next generation sequencing of newborn dried blood spots. Front Immunol, 2018, 9: 782.
22.	Blom M, Pico-Knijnenburg I, Sijne-van Veen M, et al. An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program. Clin Immunol, 2017, 180: 106-110.
23.	Barbaro M, Ohlsson A, Borte S, et al. Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study. J Clin Immunol, 2017, 37(1): 51-60.
24.	Rechavi E, Lev A, Simon AJ, et al. First year of Israeli newborn screening for severe combined immunodeficiency-clinical achievements and insights. Front Immunol, 2017, 8: 1448.
25.	Kanegae MP, Barreiros LA, Mazzucchelli JT, et al. Neonatal screening for severe combined immunodeficiency in Brazil. J Pediatr (Rio J), 2016, 92(4): 374-380.
26.	Chien YH, Chiang SC, Chang KL, et al. Incidence of severe combined immunodeficiency through newborn screening in a Chinese population. J Formos Med Assoc, 2015, 114(1): 12-16.
27.	de Felipe B, Olbrich P, Lucenas JM, et al. Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville. Pediatr Allergy Immunol, 2016, 27(1): 70-77.
28.	Vogel BH, Bonagura V, Weinberg GA, et al. Newborn screening for SCID in New York state: experience from the first two years. J Clin Immunol, 2014, 34(3): 289-303.
29.	Akobeng AK. Understanding diagnostic tests 2: likelihood ratios, pre- and post-test probabilities and their use in clinical practice. Acta Paediatr, 2007, 96(4): 487-491.
30.	Ost DE. Interpretation and application of the likelihood ratio to clinical practice in thoracic oncology. J Bronchology Interv Pulmonol, 2022, 29(1): 62-70.
31.	Mitchell MD. Validation of the summary ROC for diagnostic test meta-analysis: a Monte Carlo simulation. Acad Radiol, 2003, 10(1): 25-31.
32.	de Freitas Nakata KC, da Silva Pereira PP, Salgado Riveros B. Creatine kinase test diagnostic accuracy in neonatal screening for Duchenne muscular dystrophy: a systematic review. Clin Biochem, 2021, 98: 1-9.
33.	Diamond CE, Sanchez MJ, LaBelle JL. Diagnostic criteria and evaluation of severe combined immunodeficiency in the neonate. Pediatr Ann, 2015, 44(7): e181-187.

1. Quinn J, Orange JS, Modell V, et al. The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives one at a time. Immunol Res, 2020, 68(1): 48-53.
2. Fazlollahi MR, Pourpak Z, Hamidieh AA, et al. Clinical, laboratory, and molecular findings for 63 patients with severe combined immunodeficiency: a decade´s experience. J Investig Allergol Clin Immunol, 2017, 27(5): 299-304.
3. Thomas C, Hubert G, Catteau A, et al. Review: why screen for severe combined immunodeficiency disease. Arch Pediatr, 2020, 27(8): 485-489.
4. Yao CM, Han XH, Zhang YD, et al. Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011). J Clin Immunol, 2013, 33(3): 526-539.
5. Dvorak CC, Cowan MJ, Logan BR, et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol, 2013, 33(7): 1156-1164.
6. Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med, 2014, 371(5): 434-446.
7. Hardin O, Lokhnygina Y, Buckley RH. Long-term clinical outcomes of severe combined immunodeficiency patients given nonablative marrow transplants. J Allergy Clin Immunol Pract, 2022, 10(4): 1077-1083.
8. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol, 2005, 115(2): 391-398.
9. Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA, 2014, 312(7): 729-738.
10. Whiting PF, Rutjes AW, Westwood ME, et al. QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann Intern Med, 2011, 155(8): 529-536.
11. Chan SB, Zhong Y, Lim SCJ, et al. Implementation of universal newborn screening for severe combined immunodeficiency in Singapore while continuing routine bacille-calmette-guerin vaccination given at birth. Front Immunol, 2022, 12: 794221.
12. Wakamatsu M, Kojima D, Muramatsu H, et al. TREC/KREC newborn screening followed by next-generation sequencing for severe combined immunodeficiency in Japan. J Clin Immunol, 2022, 42(8): 1696-1707.
13. Hale JE, Platt CD, Bonilla FA, et al. Ten years of newborn screening for severe combined immunodeficiency (SCID) in Massachusetts. J Allergy Clin Immunol Pract, 2021, 9(5): 2060-2067.
14. Kutlug S, Karadag AM, Hancioglu G, et al. Multiplex PCR-based newborn screening for severe T and B-cell lymphopenia: the first pilot study in Turkey. Sisli Etfal Hastan Tip Bul, 2021, 55(4): 551-559.
15. Thorsen J, Kolbert K, Joshi A, et al. Newborn screening for severe combined immunodeficiency: 10-year experience at a single referral center (2009-2018). J Clin Immunol, 2021, 41(3): 595-602.
16. Göngrich C, Ekwall O, Sundin M, et al. First year of TREC-based national SCID screening in Sweden. Int J Neonatal Screen, 2021, 7(3): 59.
17. Argudo-Ramírez A, Martín-Nalda A, González de Aledo-Castillo JM, et al. Newborn screening for SCID. experience in Spain (Catalonia). Int J Neonatal Screen, 2021, 7(3): 46.
18. Giżewska M, Durda K, Winter T, et al. Newborn screening for SCID and other severe primary immunodeficiency in the Polish-German transborder area: experience from the first 14 months of collaboration. Front Immunol, 2020, 11: 1948.
19. Thomas C, Durand-Zaleski I, Frenkiel J, et al. Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clin Immunol, 2019, 202: 33-39.
20. Amatuni GS, Currier RJ, Church JA, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010-2017. Pediatrics, 2019, 143(2): e20182300.
21. Al-Mousa H, Al-Dakheel G, Jabr A, et al. High incidence of severe combined immunodeficiency disease in Saudi Arabia detected through combined T cell receptor excision circle and next generation sequencing of newborn dried blood spots. Front Immunol, 2018, 9: 782.
22. Blom M, Pico-Knijnenburg I, Sijne-van Veen M, et al. An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program. Clin Immunol, 2017, 180: 106-110.
23. Barbaro M, Ohlsson A, Borte S, et al. Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study. J Clin Immunol, 2017, 37(1): 51-60.
24. Rechavi E, Lev A, Simon AJ, et al. First year of Israeli newborn screening for severe combined immunodeficiency-clinical achievements and insights. Front Immunol, 2017, 8: 1448.
25. Kanegae MP, Barreiros LA, Mazzucchelli JT, et al. Neonatal screening for severe combined immunodeficiency in Brazil. J Pediatr (Rio J), 2016, 92(4): 374-380.
26. Chien YH, Chiang SC, Chang KL, et al. Incidence of severe combined immunodeficiency through newborn screening in a Chinese population. J Formos Med Assoc, 2015, 114(1): 12-16.
27. de Felipe B, Olbrich P, Lucenas JM, et al. Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville. Pediatr Allergy Immunol, 2016, 27(1): 70-77.
28. Vogel BH, Bonagura V, Weinberg GA, et al. Newborn screening for SCID in New York state: experience from the first two years. J Clin Immunol, 2014, 34(3): 289-303.
29. Akobeng AK. Understanding diagnostic tests 2: likelihood ratios, pre- and post-test probabilities and their use in clinical practice. Acta Paediatr, 2007, 96(4): 487-491.
30. Ost DE. Interpretation and application of the likelihood ratio to clinical practice in thoracic oncology. J Bronchology Interv Pulmonol, 2022, 29(1): 62-70.
31. Mitchell MD. Validation of the summary ROC for diagnostic test meta-analysis: a Monte Carlo simulation. Acad Radiol, 2003, 10(1): 25-31.
32. de Freitas Nakata KC, da Silva Pereira PP, Salgado Riveros B. Creatine kinase test diagnostic accuracy in neonatal screening for Duchenne muscular dystrophy: a systematic review. Clin Biochem, 2021, 98: 1-9.
33. Diamond CE, Sanchez MJ, LaBelle JL. Diagnostic criteria and evaluation of severe combined immunodeficiency in the neonate. Pediatr Ann, 2015, 44(7): e181-187.

Chinese Journal of Evidence-Based Medicine

Diagnostic accuracy of TRECs in newborn screening for severe combined immunodeficiency: a meta-analysis

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