A systematic review of the outcomes of false-positive results on newborn screening for congenital hypothyroidism

Objectives: 

The potential of harm to infants or their parents from a false positive (FP) newborn screening (NBS) result for congenital hypothyroidism (CH) is often cited as an argument against lowering of screening thresholds for CH. This systematic review (SR) examines the evidence of harm and factors that possibly contribute. 

Study Design: 

PRISMA guidelines were followed and the protocol was registered online (Prospero, ID CRD42019123950, 20 August 2019) before the search was conducted. Multiple electronic databases and grey literature were searched. Articles were included/excluded based on predetermined eligibility criteria. Included articles were appraised for quality, using the relevant Critical Appraisal Skills Program (CASP) tool. Data were extracted and results were tabulated and summarised as part of a narrative synthesis. 

Results: 

A total of six studies met the inclusion criteria. All were qualitative and three were based on the same cohort. Studies were published between 1983 and 1996. CASP appraisals scored 2/6 studies as moderate quality and 4/6 as low quality. Studies reported that FP results on CH screening may cause initial stress for parents and poorly defined behavioural disturbance in a small number of children, though these effects were generally not long-lasting. Poor screening processes and inadequate communication with parents, increased the risk of harm to parents and children, from FP results. 

Conclusion: 

This SR found a small number of dated, qualitative studies of low to moderate quality, conducted soon after the initiation of NBS for CH. Conclusive evidence of the risks of harm from FP results and ways to mitigate harm, awaits further, well-designed studies.