Objectives : Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE). Materials and methods : We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; […]

OBJECTIVE: 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. MATERIALS AND METHODS: 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. RESULTS: During the study period, the following prevalences were obtained: 1:28,862 […]

OBJECTIVE: To evaluate the Neonatal Screening Program in the State of Tocantins from 1995 to 2011. MATERIALS AND METHODS: Data collection was conducted by means of interviews with those responsible for the service, by the analysis of medical records of patients diagnosed with phenylketonuria (PKU) and congenital hypothyroidism (CH) that were enrolled in the program, and by interviews with parents and/or guardians of the patients monitored. RESULTS: Program coverage increased from 32.3% to 76.6% after the implementation of the National […]

OBJECTIVE: To evaluate the Reference Center for Neonatal Screening for congenital hypothyroidism and phenylketonuria for the State of Mato Grosso. METHOD: Cross-sectional study using secondary data of screening tests carried out from January 2003 to December 2004. RESULTS: 66,337 exams were conducted with population coverage of less than 70%. The prevalence of phenylketonuria was 1:33,068 live births and of congenital hypothyroidism was 1:9,448 live births. Only 22% of the samples were collected at the recommended ag, and most of the […]

INTRODUCTION: Congenital hypothyroidism (CH) and phenylketonuria (PKU) are the most common causes of preventable mental retardation. They also have their natural courses drastically changed, depending on early diagnosis or adequate treatment. OBJECTIVES: To evaluate the Screening Program for HC and PKU, through newborn screening test in the area of Campina Grande, between 03.01.00 and 02.28.01. METHODOLOGY: We compared the number of alive newborns with the coverage of CH and PKU in the area of Campina Grande, Brazil, during the study […]