The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

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.

False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use

“…Our speculation that family physicians, possibly having less exposure to CF, might be quicker to refer to tertiary care 24 is not supported by these findings. As suggested by Karaceper et al, 7 it is possible that residual confounding related to underlying illness among FP infants or physiologic differences between the groups may explain the increased rate of hospital admissions observed in our cohort. Or, possibly, our findings may reflect different health care-seeking behavior among parents who chose pediatricians for primary care.…”

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

“…The incorporation of post-analytical interpretation and second-tier biomarker testing in the newborn screening process limits detection to high risk patients and avoids the identification of patients with ambiguous findings who face the potential of a lifetime of unnecessary monitoring [16]. With newborn screening programs continually expanding to include more conditions, the need to improve the performance of newborn screening becomes even more important in order to increase testing specificity while decreasing unnecessary parental anxiety and follow up costs due to false-positive results [33,34]. Newborn screening has the capacity to avoid the diagnostic delay and accompanying distress that may be experienced by the patient and family in this scenario, allowing for early identification and timely implementation of treatment.…”

A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

“…If mild MCAD deficiency cases would be excluded, the prevalence would still be in line with the estimate based on the c.985A>G ACADM carrier frequency in our country. It can be questioned whether mild MCAD deficiency cases, such as compound heterozygotes for the c.985A>G and c.199T>C ACADM mutations, realistically carry clinical risks or only demonstrate a biochemical variation causing unnecessary anxiety, medical interventions, and follow‐up . Long‐term clinical follow‐up studies are warranted to assess the clinical consequences of mild MCAD deficiency.…”