Abstract
ObjectivesAs more families participate expanded newborn screening for metabolic disorders in China, the overall number of false positives increases. Our goal was to assess the potential impact on parental stress, perceptions of the child's health, and family relationships.MethodsParents of 49 infants with false-positive screening results for metabolic disorders in the expanded newborn screening panel were compared with parents of 42 children with normal screening results. Parents first completed structured interview using likert scales, closed and open questions. Parents also completed the parenting stress index.ResultsA total of 88 mothers and 41 fathers were interviewed. More mothers in the false-positive group reported that their children required extra parental care (21%), compared with 5% of mothers in the normal-screened group (P<0.001). 39% of mothers in the false-positive group reported that they worry about their child's future development, compared with 10% of mothers in the normal-screened group (P<0.001). Fathers in the false-positive group did not differ from fathers in the normal-screened group in reporting worry about their child's extra care requirements, and their child's future development. Children with false-positive results compared with children with normal results were triple as likely to experience hospitalization (27%vs 9%, respectively; P<0.001).ConclusionsThe results showing false-positive screening results may affect parental stress and the parent-child relationship. Parental stress and anxiety can be reduced with improved education and communication to parents about false-positive results.
Highlights
Expanded newborn screening (NBS) using tandem mass spectrometry (MS/MS) to identify more than 30 biochemical genetic disorders is an important advance in early disease detection
Our results indicate that a false-positive result from an expanded newborn screening test can induce some parents to experience stress and affect parents’ perceptions of their child’s health, and the parent-child relationship
This finding is expressed by parents’ higher overall stress on the parenting stress index (PSI), more than four times required extra parental care, 3 times the number of children hospitalized, longer hospital stays in the false-positive group compared with the normal screen group
Summary
Expanded newborn screening (NBS) using tandem mass spectrometry (MS/MS) to identify more than 30 biochemical genetic disorders is an important advance in early disease detection. Expanded newborn screening has led to an increase in positive identifications and to a dramatic increase in the overall number of out-of-range results, of which the majority are confirmed to be false positives after further testing [2]. These results are not laboratory mistakes but rather are transient findings or indications of variant or carrier status. Studies reported long-term negative effects including alterations in perceptions of their infant’s health, an increase in the number of emergency room visits, and hospitalizations for the infant [5,6,7,8]
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