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[Prevalence of disorders detected by newborn screening in Santa Catarina]

Adriana Kleist Clark Nunes1, Regiane Gutjahr Wachholz, Marina R M Rover

  • 1Universidade Federal de Santa Catarina, Florianópolis, SC, Brasil.

Arquivos Brasileiros De Endocrinologia E Metabologia
|July 31, 2013
PubMed

Insights

This study assessed newborn screening data in Santa Catarina from 2004-2008. Results revealed varying prevalences for phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH) compared to national data.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Public Health

Context:

  • Newborn screening programs are crucial for early detection of genetic and metabolic disorders.
  • Understanding regional disease prevalence is essential for public health planning and resource allocation.
  • Santa Catarina, Brazil, has a unique demographic profile that may influence disease patterns.

Purpose:

  • To determine the prevalence of phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH) in Santa Catarina.
  • To establish a local population profile for these specific newborn diseases.
  • To compare Santa Catarina's disease prevalence with national and global data.

Summary:

  • A survey of data from the Newborn Screening Program in Santa Catarina (2004-2008) analyzed the prevalence of PKU, CH, CF, HB S, and CAH.
  • Prevalence rates were: PKU 1:28,862; CH 1:2,876; CF 1:5,121; HB S 1:14,446; CAH 1:11,655.
  • PKU prevalence was lower, and CAH prevalence was higher than national averages. CH prevalence was similar. HB S was reduced, and CF was increased due to the predominantly Caucasian population.

Impact:

  • Provides essential epidemiological data for Santa Catarina's public health initiatives.
  • Informs targeted interventions and healthcare resource management for specific newborn conditions.
  • Highlights the influence of population demographics on the prevalence of genetic disorders.
Abstract

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