A three-year follow-up of congenital adrenal hyperplasia newborn screening
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-weigh...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Portuguese |
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Brazilian Society of Pediatrics
2014-05-01
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| Series: | Jornal de Pediatria (Versão em Português) |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2255553614000317 |
| _version_ | 1828224630074114048 |
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| author | Isabela L. Pezzuti Cristina B. Barra Rafael M. Mantovani José N. Januário Ivani N. Silva |
| author_facet | Isabela L. Pezzuti Cristina B. Barra Rafael M. Mantovani José N. Januário Ivani N. Silva |
| author_sort | Isabela L. Pezzuti |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-12T17:21:10Z |
| format | Article |
| id | doaj.art-f90df742e9b641f8b0aacddd209a3cdb |
| institution | Directory Open Access Journal |
| issn | 2255-5536 |
| language | Portuguese |
| last_indexed | 2024-04-12T17:21:10Z |
| publishDate | 2014-05-01 |
| publisher | Brazilian Society of Pediatrics |
| record_format | Article |
| series | Jornal de Pediatria (Versão em Português) |
| spelling | doaj.art-f90df742e9b641f8b0aacddd209a3cdb2022-12-22T03:23:29ZporBrazilian Society of PediatricsJornal de Pediatria (Versão em Português)2255-55362014-05-0190330030710.1016/j.jpedp.2013.08.006A three-year follow-up of congenital adrenal hyperplasia newborn screeningIsabela L. Pezzuti0Cristina B. Barra1Rafael M. Mantovani2José N. Januário3Ivani N. Silva4Departamento de Pediatria, Divisão de Endocrinologia Pediátrica, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, BrasilDepartamento de Pediatria, Divisão de Endocrinologia Pediátrica, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, BrasilDivisão de Endocrinologia Pediátrica, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, BrasilDepartamento de Medicina Interna, Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD), Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, BrasilDepartamento de Pediatria, Divisão de Endocrinologia Pediátrica, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, BrasilObjective: 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.http://www.sciencedirect.com/science/article/pii/S2255553614000317Congenital Adrenal HyperplasiaNeonatal ScreeningEarly Diagnosis17-hydroxypro- gesterone |
| spellingShingle | Isabela L. Pezzuti Cristina B. Barra Rafael M. Mantovani José N. Januário Ivani N. Silva A three-year follow-up of congenital adrenal hyperplasia newborn screening Jornal de Pediatria (Versão em Português) Congenital Adrenal Hyperplasia Neonatal Screening Early Diagnosis 17-hydroxypro- gesterone |
| title | 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_short | A three-year follow-up of congenital adrenal hyperplasia newborn screening |
| title_sort | three year follow up of congenital adrenal hyperplasia newborn screening |
| topic | Congenital Adrenal Hyperplasia Neonatal Screening Early Diagnosis 17-hydroxypro- gesterone |
| url | http://www.sciencedirect.com/science/article/pii/S2255553614000317 |
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