Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress

JAMA. 2003 Nov 19;290(19):2564-72. doi: 10.1001/jama.290.19.2564.


Context: 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.

Objectives: 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.

Design: Prospective study involving an inception cohort of newly diagnosed children.

Setting: Massachusetts, Maine, and a private laboratory in Pennsylvania with expanded newborn screening; other New England states with limited screening.

Participants: 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).

Main outcome measures: 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Attitude to Health
  • Child
  • Child Development*
  • Child, Preschool
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / etiology
  • False Positive Reactions
  • Female
  • Health Status
  • Hospitalization / statistics & numerical data
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / diagnosis
  • Intellectual Disability / etiology
  • Male
  • Mass Spectrometry
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / physiopathology
  • Metabolism, Inborn Errors / therapy
  • Neonatal Screening* / psychology
  • Parents / psychology*
  • Prospective Studies
  • Stress, Psychological*