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