domingo, 15 de julio de 2012

Birth prevalence of disorders detectable through n... [Genet Med. 2012] - PubMed - NCBI

Birth prevalence of disorders detectable through n... [Genet Med. 2012] - PubMed - NCBI


2012 Jul 5. doi: 10.1038/gim.2012.76. [Epub ahead of print]

Birth prevalence of disorders detectable through newborn screening by race/ethnicity.

Source

Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA.

Abstract

Purpose:The purpose of this study was to describe the birth prevalence of genetic disorders among different racial/ethnic groups through population-based newborn screening data.Methods:Between 7 July 2005 and 6 July 2010 newborns in California were screened for selected metabolic, endocrine, hemoglobin, and cystic fibrosis disorders using a blood sample collected via heel stick. The race and ethnicity of each newborn was self-reported by the mother at the time of specimen collection.Results:Of 2,282,138 newborns screened, the overall disorder detection rate was 1 in 500 births. The disorder with the highest prevalence among all groups was primary congenital hypothyroidism (1 in 1,706 births). Birth prevalence for specific disorders varied widely among different racial/ethnic groups.Conclusion:The California newborn screening data offer a unique opportunity to explore the birth prevalence of many genetic disorders across a wide spectrum of racial/ethnicity classifications. The data demonstrate that racial/ethnic subgroups of the California newborn population have very different patterns of heritable disease expression. Determining the birth prevalence of these disorders in California is a first step to understanding the short- and long-term medical and treatment needs faced by affected communities, especially those groups that are impacted by more severe disorders.Genet Med advance online publication 5 July 2012.

PMID:
22766612
[PubMed - as supplied by publisher]

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