Abstract
BackgroundThere is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in a cohort of Ontario infants.MethodsThe cohort included all children who received newborn screening in Ontario between April 1, 2006 and March 31, 2010. Newborn screening and diagnostic confirmation results were linked to province-wide health care administrative datasets covering physician visits, emergency department visits, and inpatient hospitalizations, to determine health service utilization from April 1, 2006 through March 31, 2012. Incidence rate ratios (IRRs) were used to compare those with false positive results for MCADD to those with negative newborn screening results, stratified by age at service use.ResultsWe identified 43 infants with a false positive newborn screening result for MCADD during the study period. These infants experienced significantly higher rates of physician visits (IRR: 1.42) and hospitalizations (IRR: 2.32) in the first year of life relative to a screen negative cohort in adjusted analyses. Differences in health services use were not observed after the first year of life.ConclusionsThe higher use of some health services among false positive infants during the first year of life may be explained by a psychosocial impact of false positive results on parental perceptions of infant health, and/or by differences in underlying health status. Understanding the impact of false positive newborn screening results can help to inform newborn screening programs in designing support and education for families. This is particularly important as additional disorders are added to expanded screening panels, yielding important clinical benefits for affected children but also a higher frequency of false positive findings.
Highlights
There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns
It is challenging to ascribe any increases in health services use to the parental psychosocial impact of receiving a false positive result
Children in the primary and secondary comparison groups had average rates of 8.44 and 9.00 physician visits per child per year respectively. Those with false positive results for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) had a total of 105 Emergency department (ED) visits over the follow-up period with an average rate of 0.60 ED visits per child per year; those in the comparison cohorts had averages of 0.66 and 0.72 ED visits per child per year, respectively
Summary
There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. It is challenging to ascribe any increases in health services use to the parental psychosocial impact of receiving a false positive result. Infants born preterm or with low birth weight are more likely to receive positive newborn screening results in the absence of disease, due to their underlying biology and the nature of the biochemical markers used in the screening tests [10,11,12]. Abnormal values for such markers may reflect other factors related to infant metabolism. Increased health services use might be attributable to health needs rather than the screening result
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