Neonatal screening for severe combined immunodeficiency in Brazil

Marilia Pyles Patto Kanegae, Lucila Akune Barreiros, Juliana Themudo Lessa Mazzucchelli, Sonia Marchezi Hadachi, Laura Maria de Figueiredo Ferreira Guilhoto, Ana Lúcia Acquesta, Isabel Rugue Genov, Silvia Maia Holanda, Regina Sumiko Watanabe Di Gesu, Ana Lucia Goulart, Amélia Miyashiro Nunes dos Santos, Newton Bellesi (+2 others)
2016 Jornal de Pediatria  
Objective: To apply, in Brazil, the T-cell receptor excision circles (TRECs) quantification technique using real-time polymerase chain reaction in newborn screening for severe combined immunodeficiency and assess the feasibility of implementing it on a large scale in Brazil. Methods: 8715 newborn blood samples were collected on filter paper and, after DNA elution, TRECs were quantified by real-time polymerase chain reaction. The cutoff value to determine whether a sample was abnormal was
more » ... abnormal was determined by ROC curve analysis, using SSPS. Results: The concentration of TRECs in 8,682 samples ranged from 2 to 2,181 TRECs/L of blood, with mean and median of 324 and 259 TRECs/L, respectively. Forty-nine (0.56%) samples were below the cutoff (30 TRECs/L) and were reanalyzed. Four (0.05%) samples had abnormal results (between 16 and 29 TRECs/L). Samples from patients previously identified as having severe combined immunodeficiency or DiGeorge syndrome were used to validate the assay and ଝ Please cite this article as: Kanegae MP, Barreiros LA, Mazzucchelli JT, Hadachi SM, Guilhoto LM, Acquesta AL, et al. Neonatal screening for severe combined immunodeficiency in Brazil. J Pediatr (Rio J). 2016;92:374---80. ଝଝ This study was carried out at the
doi:10.1016/j.jped.2015.10.006 pmid:27207231 fatcat:6emnqbgnu5dvxoucrhcmog745i