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Expanded newborn screening for biochemical disorders: the effect of a false-positive result
Elizabeth A Gurian1, Daniel D Kinnamon, Judith J Henry
1Department of Medicine, Children's Hospital Boston, Boston, MA 02115, USA. elizabeth.gurian@childrens.harvard.edu
Insights
False-positive newborn screening results increase parental stress and negatively impact parent-child relationships. Clear communication about repeat screening can mitigate these adverse effects.
Area of Science:
- Biochemical genetics
- Pediatric screening
- Parental mental health
Background:
- Expanded newborn screening identifies over 30 biochemical genetic disorders.
- Increasing screening panels may lead to more false-positive results.
- False positives raise concerns about parental stress and family dynamics.
Purpose of the Study:
- To investigate the impact of false-positive newborn screening results on parental stress.
- To compare parental stress levels between false-positive and normal screening groups.
- To explore the relationship between parental understanding of screening and stress.
Main Methods:
- Compared parents of 173 infants with false-positive results to 67 parents with normal results.
- Utilized interviews to gather data on demographics, health, and screening understanding.
- Administered the Parenting Stress Index (PSI) to assess parental stress.
Main Results:
- Parents with false-positive results reported higher overall PSI scores.
- Elevated scores were observed in parent-child dysfunction and difficult child subscales.
- Only one-third of false-positive parents understood the reason for repeat screening; informed mothers experienced less stress.
Conclusions:
- False-positive newborn screening results can negatively affect parental stress and parent-child relationships.
- Enhanced communication regarding repeat screening is crucial.
- Improving parental understanding may reduce the psychological burden of false positives.
Background:
Newborn screening programs now identify children with >30 biochemical genetic disorders. False-positive identifications may increase as disorders are added to screening panels. Concerns arise regarding the potential impact on parental stress, family relationships, and perceptions of the child's health.
Methods:
Parents of 173 infants with false-positive screening results for a biochemical genetic disorder in the expanded newborn screening panel were compared with parents of 67 children with normal screening results. Parents completed an interview that elicited information about demographic features, child and parental health, and understanding of newborn screening. Parents also completed the parenting stress index.
Results:
Parents in the false-positive group attained higher total scores on the PSI than did parents in the normal-screened group, scoring higher on the parent-child dysfunction subscale and the difficult child subscale. Only approximately one third of parents in the false-positive group reported knowing the correct reason for repeat screening. Mothers who reported knowing the correct reason for their child's repeat screening test experienced less total stress than did mothers who were misinformed, were not informed, or did not remember.
Conclusions:
False-positive screening results may affect parental stress and the parent-child relationship. Improved communication with parents regarding the need for repeat screening tests may reduce the negative impact of false-positive results.
