False Positive Newborn Screening Results Are Not Always Benign

OBJECTIVE: Our goal was to assess the impact on families of receiving abnormal newborn screening results. PATIENTS AND METHODS: We conducted telephone interviews with parents of 3 groups of children who had received abnormal newborn screening results: (1) false positive but otherwise healthy (FP, n = 28), (2) true positive (TP, n = 20), and (3) false positive with other medical conditions (FP + other, n = 12). Interviews, based on the instruments developed by Waisbren et al. [J Pediatr Psychol 2004;29:565-570], included open- and close-ended questions as well as the Parental Stress Index (PSI). RESULTS: In response to open ended questions, FP parents expressed concern about having more children and identified numerous problems with how they were told about newborn screening. Parents of FP + other reported the most stress, followed by parents of children with metabolic disease. Nonetheless, almost 10% of FP parents reported clinically significant stress as well as worry about their child's health and future. CONCLUSIONS: False positive newborn screening results cause some parents to experience stress and long-term worry. Although more work is needed to learn how well these sequelae can be averted by more effective communication in the pre- and postnatal periods, these effects need to be considered in deciding whether to add new disorders to newborn screening panels.