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Qual Health Res. 2011 Feb;21(2):174-86. doi: 10.1177/1049732310382919. Epub 2010 Sep 17.

Psychosocial consequences of false-positive newborn screens for cystic fibrosis.

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  • 1Department of Pediatrics, University of Wisconsin, School of Medicine and Public Health, Madison, Wisconsin, USA. atluczek@wisc.edu


This study was designed to develop a framework for understanding parents' perspectives about the psychosocial consequences of false-positive newborn screening (NBS) results for cystic fibrosis (CF). Through content analysis of interviews with 87 parents of 44 infants, we found that receipt of genetic information through NBS affected parents on intrapersonal and interpersonal levels within a relational family system. Repercussions included wondering about test accuracy, the child's health, and the future; gaining new perspectives and strengthening relationships; questioning paternity; wondering if other relatives had CF/were carriers; searching for the genetic source; sharing genetic information; supporting NBS; and feeling empathy for parents of affected children. We concluded that abnormal NBS results that involve genetic testing can have psychosocial consequences that affect entire families. These findings merit additional investigation of long-term psychosocial sequelae for false-positive results, interventions to reduce adverse iatrogenic outcomes, and the relevance of the relational family system framework to other genetic testing.

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