A three-year follow-up of congenital adrenal hyperplasia newborn screening,

Detalhes bibliográficos
Autor(a) principal: Pezzuti,Isabela L.
Data de Publicação: 2014
Outros Autores: Barra,Cristina B., Mantovani,Rafael M., Januário,José N., Silva,Ivani N.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal de Pediatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572014000300300
Resumo: OBJECTIVE:congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up.METHODS:dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA).RESULTS:a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively.CONCLUSIONS:newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children with the disease who otherwise cannot be diagnosed earlier. Long-term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio of the disease.
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spelling A three-year follow-up of congenital adrenal hyperplasia newborn screening,Congenital Adrenal HyperplasiaNeonatal ScreeningEarly Diagnosis17-hydroxyprogesteroneOBJECTIVE:congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up.METHODS:dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA).RESULTS:a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively.CONCLUSIONS:newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children with the disease who otherwise cannot be diagnosed earlier. Long-term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio of the disease.Sociedade Brasileira de Pediatria2014-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572014000300300Jornal de Pediatria v.90 n.3 2014reponame:Jornal de Pediatria (Online)instname:Sociedade Brasileira de Pediatria (SBP)instacron:SBPE10.1016/j.jped.2013.09.007info:eu-repo/semantics/openAccessPezzuti,Isabela L.Barra,Cristina B.Mantovani,Rafael M.Januário,José N.Silva,Ivani N.eng2015-09-01T00:00:00Zoai:scielo:S0021-75572014000300300Revistahttp://www.jped.com.br/https://old.scielo.br/oai/scielo-oai.php||jped@jped.com.br1678-47820021-7557opendoar:2015-09-01T00:00Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)false
dc.title.none.fl_str_mv A three-year follow-up of congenital adrenal hyperplasia newborn screening,
title A three-year follow-up of congenital adrenal hyperplasia newborn screening,
spellingShingle A three-year follow-up of congenital adrenal hyperplasia newborn screening,
Pezzuti,Isabela L.
Congenital Adrenal Hyperplasia
Neonatal Screening
Early Diagnosis
17-hydroxyprogesterone
title_short A three-year follow-up of congenital adrenal hyperplasia newborn screening,
title_full A three-year follow-up of congenital adrenal hyperplasia newborn screening,
title_fullStr A three-year follow-up of congenital adrenal hyperplasia newborn screening,
title_full_unstemmed A three-year follow-up of congenital adrenal hyperplasia newborn screening,
title_sort A three-year follow-up of congenital adrenal hyperplasia newborn screening,
author Pezzuti,Isabela L.
author_facet Pezzuti,Isabela L.
Barra,Cristina B.
Mantovani,Rafael M.
Januário,José N.
Silva,Ivani N.
author_role author
author2 Barra,Cristina B.
Mantovani,Rafael M.
Januário,José N.
Silva,Ivani N.
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Pezzuti,Isabela L.
Barra,Cristina B.
Mantovani,Rafael M.
Januário,José N.
Silva,Ivani N.
dc.subject.por.fl_str_mv Congenital Adrenal Hyperplasia
Neonatal Screening
Early Diagnosis
17-hydroxyprogesterone
topic Congenital Adrenal Hyperplasia
Neonatal Screening
Early Diagnosis
17-hydroxyprogesterone
description OBJECTIVE:congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up.METHODS:dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA).RESULTS:a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively.CONCLUSIONS:newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children with the disease who otherwise cannot be diagnosed earlier. Long-term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio of the disease.
publishDate 2014
dc.date.none.fl_str_mv 2014-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572014000300300
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1016/j.jped.2013.09.007
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Pediatria
publisher.none.fl_str_mv Sociedade Brasileira de Pediatria
dc.source.none.fl_str_mv Jornal de Pediatria v.90 n.3 2014
reponame:Jornal de Pediatria (Online)
instname:Sociedade Brasileira de Pediatria (SBP)
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instname_str Sociedade Brasileira de Pediatria (SBP)
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reponame_str Jornal de Pediatria (Online)
collection Jornal de Pediatria (Online)
repository.name.fl_str_mv Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)
repository.mail.fl_str_mv ||jped@jped.com.br
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