title: Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience.
abstract: BACKGROUND
  Since 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba.
  
  
  METHODS
  The hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those neonates with 17OHP values above 55 nmol/l. Some perinatal factors that can influence on 17OHP levels were studied.
  
  
  RESULTS
  From January 2005 to December 2010, 621,303 newborns were screened and 39 CAH cases were detected. Coverage of the program reached 98%. The incidence of CAH in Cuba was 1:15,931, similar to that reported by other programs. A recall for suspected CAH was performed in 10,799 cases (1.74%). Therapy in classical CAH patients was started at the mean age of 22 days. 17OHP levels were significantly higher in newborns with lower birth-weight (BW) and/or gestational age (GA). In addition, 17OHP values were affected by the gender, twin status or mode of delivery.
  
  
  CONCLUSIONS
  In Cuba, the nationwide newborn screening program has allowed the early detection of CAH. The use of an optimized cut-off level for BW or GA could lead to a reduction in the percentage of recalled babies.
authors.affiliation: Department of Neonatal Screening, Immunoassay Center, Cubanacan, Playa, Havana, Cuba. iqtsh3@cie.sld.cu
authors.forename: Ernesto Carlos
authors.initials: EC
authors.lastname: González
authors.forename: Frank
authors.initials: F
authors.lastname: Carvajal
authors.forename: Amarilys
authors.initials: A
authors.lastname: Frómeta
authors.forename: Ana Luisa
authors.initials: AL
authors.lastname: Arteaga
authors.forename: Elisa María
authors.initials: EM
authors.lastname: Castells
authors.forename: Tania
authors.initials: T
authors.lastname: Espinosa
authors.forename: Remigio
authors.initials: R
authors.lastname: Coto
authors.forename: Pedro Lucio
authors.initials: PL
authors.lastname: Pérez
authors.forename: Yileidis
authors.initials: Y
authors.lastname: Tejeda
authors.forename: Lesley
authors.initials: L
authors.lastname: Del Río
authors.forename: Mary Triny
authors.initials: MT
authors.lastname: Segura
authors.forename: Pedro
authors.initials: P
authors.lastname: Almenares
authors.forename: René
authors.initials: R
authors.lastname: Robaina
authors.forename: José Luis
authors.initials: JL
authors.lastname: Fernández
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood* / Q000175:diagnosis* / Q000453:epidemiology; D001724:Birth Weight; D003462:Cuba / Q000453:epidemiology; D059788:Dried Blood Spot Testing; D042241:Early Diagnosis; D005260:Female; D005865:Gestational Age; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening
chemical_list: D019326:17-alpha-Hydroxyprogesterone