How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?

Detalhes bibliográficos
Autor(a) principal: Borrajo,Gustavo J.C.
Data de Publicação: 2021
Outros Autores: Doña,Vanina V.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Journal of Inborn Errors of Metabolism and Screening
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100317
Resumo: Abstract Residual DBS specimens from newborns diagnosed with Phenylketonuria, Congenital Hypothyroidism, Cystic Fibrosis, Congenital Adrenal Hyperplasia and Galactosemia collected within 1995-2018, stored in cardboard boxes at ambient temperature in uncontrolled conditions, were retested for phenylalanine (Phe), thyrotropin (TSH), immunoreactive trypsinogen (IRT), total galactose (TGal) and 17-hydroxyprogesterone (17OHP), to demonstrate how long are they stable in these conditions and useful to reconfirm a previous abnormal result. Recovery percentage at retesting and qualitative interpretation regarding the current cutoff were evaluated. Phe, TSH and IRT recoveries showed decreasing trends along time. Phe recovery was 64 % after 2-years storage; TSH decayed rapidly recovering 47.3 % at 1-year, while IRT showed recoveries of 60 % at 1-year. Although 17OHP recovery presented a wide variation of results, a decaying trend was also found. Results suggest 17OHP is more stable than TSH and IRT, as supported by recoveries > 71 % when stored ≤ 2-years. TGal recovery presented an erratic behavior, so that it was not possible to estimate expected concentrations as a function of storage time. TGal recoveries above 100 % were found in UDP-galactose-4-epimerase and galactose-1-phosphate uridyltransferase deficiencies, evidencing possible galactose liberation from other sources. These results make a very valuable contribution for programs storing residual DBS in uncontrolled conditions.
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spelling How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?Newborn screeningResidual dried blood spots specimensAnalyte StabilityStorage conditionsAbstract Residual DBS specimens from newborns diagnosed with Phenylketonuria, Congenital Hypothyroidism, Cystic Fibrosis, Congenital Adrenal Hyperplasia and Galactosemia collected within 1995-2018, stored in cardboard boxes at ambient temperature in uncontrolled conditions, were retested for phenylalanine (Phe), thyrotropin (TSH), immunoreactive trypsinogen (IRT), total galactose (TGal) and 17-hydroxyprogesterone (17OHP), to demonstrate how long are they stable in these conditions and useful to reconfirm a previous abnormal result. Recovery percentage at retesting and qualitative interpretation regarding the current cutoff were evaluated. Phe, TSH and IRT recoveries showed decreasing trends along time. Phe recovery was 64 % after 2-years storage; TSH decayed rapidly recovering 47.3 % at 1-year, while IRT showed recoveries of 60 % at 1-year. Although 17OHP recovery presented a wide variation of results, a decaying trend was also found. Results suggest 17OHP is more stable than TSH and IRT, as supported by recoveries > 71 % when stored ≤ 2-years. TGal recovery presented an erratic behavior, so that it was not possible to estimate expected concentrations as a function of storage time. TGal recoveries above 100 % were found in UDP-galactose-4-epimerase and galactose-1-phosphate uridyltransferase deficiencies, evidencing possible galactose liberation from other sources. These results make a very valuable contribution for programs storing residual DBS in uncontrolled conditions.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2021-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100317Journal of Inborn Errors of Metabolism and Screening v.9 2021reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1590/2326-4594-jiems-2021-0010info:eu-repo/semantics/openAccessBorrajo,Gustavo J.C.Doña,Vanina V.eng2021-06-29T00:00:00Zoai:scielo:S2326-45942021000100317Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2021-06-29T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false
dc.title.none.fl_str_mv How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?
title How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?
spellingShingle How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?
Borrajo,Gustavo J.C.
Newborn screening
Residual dried blood spots specimens
Analyte Stability
Storage conditions
title_short How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?
title_full How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?
title_fullStr How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?
title_full_unstemmed How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?
title_sort How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?
author Borrajo,Gustavo J.C.
author_facet Borrajo,Gustavo J.C.
Doña,Vanina V.
author_role author
author2 Doña,Vanina V.
author2_role author
dc.contributor.author.fl_str_mv Borrajo,Gustavo J.C.
Doña,Vanina V.
dc.subject.por.fl_str_mv Newborn screening
Residual dried blood spots specimens
Analyte Stability
Storage conditions
topic Newborn screening
Residual dried blood spots specimens
Analyte Stability
Storage conditions
description Abstract Residual DBS specimens from newborns diagnosed with Phenylketonuria, Congenital Hypothyroidism, Cystic Fibrosis, Congenital Adrenal Hyperplasia and Galactosemia collected within 1995-2018, stored in cardboard boxes at ambient temperature in uncontrolled conditions, were retested for phenylalanine (Phe), thyrotropin (TSH), immunoreactive trypsinogen (IRT), total galactose (TGal) and 17-hydroxyprogesterone (17OHP), to demonstrate how long are they stable in these conditions and useful to reconfirm a previous abnormal result. Recovery percentage at retesting and qualitative interpretation regarding the current cutoff were evaluated. Phe, TSH and IRT recoveries showed decreasing trends along time. Phe recovery was 64 % after 2-years storage; TSH decayed rapidly recovering 47.3 % at 1-year, while IRT showed recoveries of 60 % at 1-year. Although 17OHP recovery presented a wide variation of results, a decaying trend was also found. Results suggest 17OHP is more stable than TSH and IRT, as supported by recoveries > 71 % when stored ≤ 2-years. TGal recovery presented an erratic behavior, so that it was not possible to estimate expected concentrations as a function of storage time. TGal recoveries above 100 % were found in UDP-galactose-4-epimerase and galactose-1-phosphate uridyltransferase deficiencies, evidencing possible galactose liberation from other sources. These results make a very valuable contribution for programs storing residual DBS in uncontrolled conditions.
publishDate 2021
dc.date.none.fl_str_mv 2021-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100317
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100317
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/2326-4594-jiems-2021-0010
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
publisher.none.fl_str_mv Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
dc.source.none.fl_str_mv Journal of Inborn Errors of Metabolism and Screening v.9 2021
reponame:Journal of Inborn Errors of Metabolism and Screening
instname:Instituto Genética para Todos (IGPT)
instacron:IGPT
instname_str Instituto Genética para Todos (IGPT)
instacron_str IGPT
institution IGPT
reponame_str Journal of Inborn Errors of Metabolism and Screening
collection Journal of Inborn Errors of Metabolism and Screening
repository.name.fl_str_mv Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)
repository.mail.fl_str_mv jiems@jiems-journal.org||rgiugliani@hcpa.edu.br
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