Prevalence of disorders detected by newborn screening in Santa Catarina

To evaluate the prevalence of the diseases phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH), in the state of Santa Catarina, in order to delineate the local population profile for these diseases. A survey o...

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Bibliographic Details
Published in:Arquivos brasileiros de endocrinologia e metabologia 2013-07, Vol.57 (5), p.360-367
Main Authors: Nunes, Adriana Kleist Clark, Wachholz, Regiane Gutjahr, Rover, Marina R M, Souza, Liliete Canes
Format: Article
Language:Portuguese
Subjects:
Adrenal Hyperplasia, Congenital - epidemiology
Brazil - epidemiology
Congenital Hypothyroidism - epidemiology
Cystic Fibrosis - epidemiology
Hemoglobinopathies - epidemiology
Humans
Infant, Newborn
National Health Programs - statistics & numerical data
Phenylketonurias - epidemiology
Prevalence
Retrospective Studies
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Summary:To evaluate the prevalence of the diseases phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH), in the state of Santa Catarina, in order to delineate the local population profile for these diseases. A survey of data from the Newborn Screening Program of the Ministry of Health of Santa Catarina, in the period 2004 to 2008 was carried out. During the study period, the following prevalences were obtained: 1:28,862 children screened for PKU; 1:2,876 children screened for CH; 1:5,121 children screened for CF; 1:14,446 children screened for HB S; and 1:11,655 children screened for CAH. The prevalence of PKU proved to be lesser than the national prevalence, while CAH prevalence was greater. On the other hand CH prevalence was similar to the global and national prevalence. Moreover, the predominance of the Caucasian population in the state resulted in reduced prevalence of HB S and increased prevalence of CF in relation to the rest of the country.
ISSN:1677-9487
DOI:10.1590/S0004-27302013000500005