title: [Expanded newborn screening in the Region of Murcia, Spain. Three-years experience].
abstract: OBJECTIVE
  The early detection of inborn errors of metabolism by mass spectrometry allows expanding the traditional neonatal screening of phenylketonuria and congenital hypothyroidism to test for aminoacidopathies, fatty acid oxidation disorders and organic acid metabolic disorders. Cystic fibrosis and biotinidase deficiency screening is implemented in the Region of Murcia. The aim of the study is to describe our experience in the expanded neonatal screening and to define the prevalence of each of the metabolic disorders early detected.
  
  
  METHODS
  Since March 2007 until October 2010, a total of 71,595 neonates were screened with this expanded program by mass spectrometry, fluoroimmunoassay or colorimetric methods.
  
  
  RESULTS
  Thirty-eight patients (prevalence 1:1,884) were diagnosed of inborn errors of metabolism by mass spectrometry, 13 patients of cystic fibrosis (prevalence 1:5,507), 38 of congenital hypothyroidism (prevalence 1:1,884) and one of biotinidase deficiency. To date, the global frequency of inborn errors of metabolism is estimated to be 1:804. The positive predictive value for the results obtained by mass spectrometry was 20.25%. Two false negative patients were not identified (cystic fibrosis and methylmalonic aciduria patients) and 6 non neonatal patients were detected through expanded neonatal screening.
  
  
  CONCLUSIONS
  Our data support the necessity of unifying the set of metabolic diseases to be screened in all Regions of Spain for early detection of a defined panel of inborn errors of metabolism and to provide every newborn the same opportunities to be early diagnosed.
authors.affiliation: Sección de Metabolopatías, Centro de Bioquímica y Genética Clínica, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain. mariaj.juan2@carm.es
authors.forename: María Jesús
authors.initials: MJ
authors.lastname: Juan-Fita
authors.forename: José María
authors.initials: JM
authors.lastname: Egea-Mellado
authors.forename: Inmaculada
authors.initials: I
authors.lastname: González-Gallego
authors.forename: María Rosa
authors.initials: MR
authors.lastname: Moya-Quiles
authors.forename: Asunción
authors.initials: A
authors.lastname: Fernández-Sánchez
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000097:blood / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology; D028921:Biotinidase Deficiency / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology; D003124:Colorimetry; D003409:Congenital Hypothyroidism / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology; D003550:Cystic Fibrosis / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology; D042241:Early Diagnosis; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007124:Immunoenzyme Techniques; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology; D015997:Neonatal Screening / Q000379:methods / Q000458:organization & administration; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D013030:Spain / Q000453:epidemiology; D053719:Tandem Mass Spectrometry
chemical_list: D042964:Acyl-CoA Dehydrogenase