title: Birth prevalence of disorders detectable through newborn screening by race/ethnicity.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Genetic Disease Screening Program, California Department of Public Health, Richmond, USA. Lisa.Feuchtbaum@cdph.ca.gov
authors: Lisa
authors: L
authors: Feuchtbaum
authors: Jennifer
authors: J
authors: Carter
authors: Sunaina
authors: S
authors: Dowray
authors: Robert J
authors: RJ
authors: Currier
authors: Fred
authors: F
authors: Lorey
mesh_terms: D002140:California / Q000453:epidemiology; D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000208:ethnology* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008659:Metabolic Diseases / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D015995:Prevalence; D057566:Self Report
chemical_list: D006454:Hemoglobins