title: Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
abstract: BACKGROUND
  Tandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program.
  
  
  OBJECTIVE
  To compare newborn identification by expanded screening with clinical identification of biochemical genetic disorders and to assess the impact on families of a false-positive screening result compared with a normal result in the expanded newborn screening program.
  
  
  METHODS
  Prospective study involving an inception cohort of newly diagnosed children.
  
  
  METHODS
  Massachusetts, Maine, and a private laboratory in Pennsylvania with expanded newborn screening; other New England states with limited screening.
  
  
  METHODS
  Families of 50 affected children identified through expanded newborn screening (82% of eligible cases); 33 affected children identified clinically (97% of eligible cases); 94 screened children with false-positive results (75% of eligible cases); and 81 screened children with normal results (63% of eligible cases).
  
  
  METHODS
  Child's health and development and the Parental Stress Index.
  
  
  RESULTS
  Within the first 6 months of life, 28% of children identified by newborn screening compared with 55% of clinically identified children required hospitalization (P =.02). One child identified by newborn screening compared with 8 (42%) identified clinically performed in the range of mental retardation (P<.001). Mothers in the screened group reported lower overall stress on the Parental Stress Index than mothers in the clinically identified group (z = 3.38, P<.001). Children with false-positive results compared with children with normal results were twice as likely to experience hospitalization (21% [n = 20] vs 10% [n = 8], respectively; P =.06). Mothers of children in the false-positive group compared with mothers of children with normal screening results attained higher scores on the Parental Stress Index (z = 4.25, P<.001) and the Parent-Child Dysfunction subscale (z = 5.30, P<.001).
  
  
  CONCLUSIONS
  Expanded newborn screening may lead to improved health outcomes for affected children and lower stress for their parents. However, false-positive screening results may place families at risk for increased stress and parent-child dysfunction.
authors: Children's Hospital Boston, Mass 02115, USA. susan.waisbren@tch.harvard.edu
authors: Susan E
authors: SE
authors: Waisbren
authors: Simone
authors: S
authors: Albers
authors: Steve
authors: S
authors: Amato
authors: Mary
authors: M
authors: Ampola
authors: Thomas G
authors: TG
authors: Brewster
authors: Laurie
authors: L
authors: Demmer
authors: Roger B
authors: RB
authors: Eaton
authors: Robert
authors: R
authors: Greenstein
authors: Mark
authors: M
authors: Korson
authors: Cecilia
authors: C
authors: Larson
authors: Deborah
authors: D
authors: Marsden
authors: Michael
authors: M
authors: Msall
authors: Edwin W
authors: EW
authors: Naylor
authors: Siegfried
authors: S
authors: Pueschel
authors: Margretta
authors: M
authors: Seashore
authors: Vivian E
authors: VE
authors: Shih
authors: Harvey L
authors: HL
authors: Levy
mesh_terms: D000328:Adult; D001294:Attitude to Health; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000209:etiology; D005189:False Positive Reactions; D005260:Female; D006304:Health Status; D006760:Hospitalization / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology; D008297:Male; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D015997:Neonatal Screening / Q000523:psychology; D010290:Parents / Q000523:psychology*; D011446:Prospective Studies; D013315:Stress, Psychological