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Public Health Genomics. 2011;14(3):173-7. doi: 10.1159/000322527. Epub 2010 Dec 18.

False positive newborn screening results are not always benign.

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Department of Sociology, Vanderbilt University, Nashville, TN 37203, USA.



Our goal was to assess the impact on families of receiving abnormal newborn screening results.


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).


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.


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.

[Indexed for MEDLINE]

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