Produção Nacional
Revisado por pares
Neonatal screening for severe combined immunodeficiency in Brazil
2016; Elsevier BV; Volume: 92; Issue: 4 Linguagem: Inglês
10.1016/j.jped.2015.10.006
ISSN1678-4782
AutoresMarilia Pyles Patto Kanegae, Lucila Akune Barreiros, Juliana Themudo Lessa Mazzucchelli, Sônia Marchezi Hadachi, Laura Maria de Figueiredo Ferreira Guilhoto, Ana Lúcia Acquesta, I Genov, Silvia Maia Holanda, Regina Sumiko Watanabe Di Gesu, Ana Lúcia Goulart, Amélia Miyashiro Nunes dos Santos, Newton Bellesi, Beatriz Tavares Costa‐Carvalho, Antônio Condino‐Neto,
Tópico(s)Blood disorders and treatments
ResumoTo 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.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 determined by ROC curve analysis, using SSPS.The concentration of TRECs in 8,682 samples ranged from 2 to 2,181TRECs/μL of blood, with mean and median of 324 and 259TRECs/μL, respectively. Forty-nine (0.56%) samples were below the cutoff (30TRECs/μL) and were reanalyzed. Four (0.05%) samples had abnormal results (between 16 and 29TRECs/μL). Samples from patients previously identified as having severe combined immunodeficiency or DiGeorge syndrome were used to validate the assay and all of them showed TRECs below the cutoff. Preterm infants had lower levels of TRECs than full-term neonates. The ROC curve showed a cutoff of 26TRECs/μL, with 100% sensitivity for detecting severe combined immunodeficiency. Using this value, retest and referral rates were 0.43% (37 samples) and 0.03% (3 samples), respectively.The technique is reliable and can be applied on a large scale after the training of technical teams throughout Brazil.
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