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Abnormal results of newborn screening for common metabolic diseases are known to create substantial distress for parents. We explored parents' perceptions during diagnostic evaluations for newer disorders that are less well understood.

Thirty families completed 48 open-ended interviews before and/or after parents received confirmatory test results for their infants. Qualitative content analysis was used to analyze the data.

Parents were shocked by the notification of the abnormal test result. Their urgent and often frustrating searches for information dominated the early phase of the screening process. Treatment center personnel were mainly informative and reassuring, but waiting for results exacerbated parents' distress. Equivocal results from diagnostic testing created uncertainties for parents regarding their infants' long-term …