| Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. | |
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MedLine Citation:
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PMID: 14625333 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Susan E Waisbren; Simone Albers; Steve Amato; Mary Ampola; Thomas G Brewster; Laurie Demmer; Roger B Eaton; Robert Greenstein; Mark Korson; Cecilia Larson; Deborah Marsden; Michael Msall; Edwin W Naylor; Siegfried Pueschel; Margretta Seashore; Vivian E Shih; Harvey L Levy |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: JAMA : the journal of the American Medical Association Volume: 290 ISSN: 1538-3598 ISO Abbreviation: JAMA Publication Date: 2003 Nov |
Date Detail:
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Created Date: 2003-11-19 Completed Date: 2003-11-21 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7501160 Medline TA: JAMA Country: United States |
Other Details:
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Languages: eng Pagination: 2564-72 Citation Subset: AIM; IM |
Affiliation:
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Children's Hospital Boston, Mass 02115, USA. susan.waisbren@tch.harvard.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Attitude to Health Child Child Development* Child, Preschool Developmental Disabilities / diagnosis, etiology False Positive Reactions Female Health Status Hospitalization / statistics & numerical data Humans Infant Infant, Newborn Male Mass Spectrometry Mental Retardation / diagnosis, etiology Metabolism, Inborn Errors / diagnosis*, physiopathology, therapy Neonatal Screening* / psychology Parents / psychology* Prospective Studies Stress, Psychological* |
| Grant Support | |
ID/Acronym/Agency:
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5H46 MC 00158//PHS HHS; R01 HG02085/HG/NHGRI NIH HHS |
| Comments/Corrections | |
Comment In:
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JAMA. 2003 Nov 19;290(19):2606-8
[PMID:
14625339
]
JAMA. 2004 Mar 24;291(12):1444; author reply 1444-5 [PMID: 15039408 ] J Pediatr. 2004 May;144(5):685-6 [PMID: 15151122 ] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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