False Positive Newborn Screening Results Are Not Always Benign

• Published in: Community genetics 2011-01, Vol.14 (3), p.173-177
• Main Authors: Morrison, D.R., Clayton, E.W.
• Format: Article
• Language: English
• Subjects: Adult; False Positive Reactions; Female; Humans; Infant, Newborn; Male; Metabolic disorders; Neonatal Screening - standards; Original Paper
• ISSN: 1662-4246; 1662-8063
• DOI: 10.1159/000322527

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.