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Susan E. Waisbren, PhD; Simone Albers, MD; Steve Amato, MD; Mary Ampola, MD; Thomas G. Brewster, MD; Laurie Demmer, MD; Roger B. Eaton, PhD; Robert Greenstein, MD; Mark Korson, MD; Cecilia Larson, MD; Deborah Marsden, MD; Michael Msall, MD; Edwin W. Naylor, PhD; Siegfried Pueschel, MD; Margretta Seashore, MD; Vivian E. Shih, MD; Harvey L. Levy, MD

JAMA. 2003;290:2564-2572.

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.

Author Affiliations: Children's Hospital Boston, Mass (Drs Waisbren, Marsden, and Levy); University of Munster, Munster, Germany (Dr Albers); Eastern Maine Medical Center, Bangor (Dr Amato); New England Medical Center, Boston (Drs Ampola, Korson, and Demmer); Maine Medical Center, Portland (Dr Brewster); New England Newborn Screening Program of the University of Massachusetts Medical School, Jamaica Plain (Drs Eaton and Larson); Rhode Island Hospital, Providence (Drs Msall and Pueschel); University of Connecticut Health Center, Farmington (Dr Greenstein); Pediatrix Screening Inc, Bridgeville, Pa (Dr Naylor); Yale University School of Medicine, New Haven, Conn (Dr Seashore); Massachusetts General Hospital, Boston (Dr Shih). All authors are also members of the New England Consortium of Metabolic Programs.

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