Abstract
Expanded newborn screening panels using tandem mass spectrometry and increasingly genomic sequencing inevitably detect
carrier status for some conditions alongside the affected infants the programme is designed to identify, and this incidental carrier
detection generates a communication and follow-up burden that most screening programmes were not originally designed around.
We reviewed carrier detection rates and downstream parental communication and follow-up activity across a national newborn
screening programme's five-year experience expanding its panel, and surveyed parents who received an incidental carrier result
about their understanding of its meaning and any reported anxiety. Carrier results were returned for 1.8% of screened infants
across the expanded panel, and while 71% of surveyed parents correctly understood their child was not affected by the condition,
34% reported ongoing worry about their child's future health despite correct understanding, and 19% had sought additional,
sometimes unnecessary, medical follow-up. We discuss what these findings imply for how carrier results should be communicated
as panels continue to expand.
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