Pediatric Pulmonology Supplement 7:29-37 (1 991) Psychological Impact of False-Positive Results When Screening for Cystic Fibrosis Audrey Tluczek, RN, MS,‘ Elaine H. Mischler, MD,~ Barbara Bowers, RN, PhD,l Nanette M. Peterson, RN, MS,’ Mary E. Morris, FIN, M S,~ Philip M. Farrell, MD,PhD,’ W. Theodore Bruns, MD,~ Holly Colby, RN, BSN,’ Catherine McCarthy, RN, BSN,‘ Norman Fost, MD, MPH,‘ and Patrick Carey, MS~ INTRODUCTION zyxwvutsrq The development of a neonatal screening test for cystic fibrosis (CF), the immunoreactive trypsinogen assay (IRT),’ has provided an opportunity for early identifica- tion of infants with CF. As with any screening test, false-positive results are inevitable. The incidence of false-positive IRT results varies depending upon the technique used. Infants with false-positive results include those with perinatal asphyxia (demonstrated by low Apgar scores), respiratory distress syndrome, transient neonatal tachypnea, and meconium aspiration.* There- fore, the parents of infants with false-positive zyxwvut IRT results may be at greater psychological risk because they may already have concerns for their infant’s health based upon their neonatal experience. Since the infant with the erroneous results receives no medical benefits, potential adverse psychological and social effects of screening on the false-positive child and hidher family must be considered when weighing the risks and benefits of the new procedure. However, relatively little attention has been given to this issue and few screening programs have implemented systematic follow-up for the false-positive families. Two neonatal screening programs have reported ad- verse psychosocial effects of false-positive results for phenylketonuria (PKU) and for hypothyroidism testing. A “PKU anxiety” syndrome was noted during the first 21 months of screening for this d i ~ o r d e r . ~ This syndrome was characterized by acute and chronic anxiety in the parents of children with false-positive results. Parents expressed doubts about the test results and concerns for their child’s health.3 In a report about false-positive results on screening for hypothyroidism, parents were observed to have strong emotional responses to the initial news of the test results. These responses included shock, sleep disturbances, crying, and infant feeding problems. There was a significant correlation between strong emo- tional response and the lack of residual anxiety at the 6- and 12-month follow-up evaluations. The families who had weak emotional responses, initially, demonstrated persistent concerns for the health and development of their child during the follow-up evaluations at 6 and 12 months of age.4 A “vulnerable child’ ~ y n d r o m e ~ , ~ has been observed in two reports about families with a child who experienced a life-threatening event. Parents demonstrated overpro- tective behaviors long after the actual threat had been resolved. Similar to parental responses demonstrated in these reports, having a false-positive screening test for a chronic and serious disease like cystic fibrosis might be perceived by parents as a serious threat to their child’s well-being. The potential for an alteration in a parent’s perception of or interaction with their child is deserving of consideration as a potential risk factor in neonatal screening, especially if the effects are long-lasting z . Additionally, unresolved concerns about the vulnerabil- ity of the child or the presence of a genetic illness might influence parental reproductive plans. The effects of false-positive screening results upon parental reproduc- tive plans have never been examined. The implementation of the CF screening program in Wisconsin on an experimental basis has provided an opportunity to examine and compare the effects upon parents of children with false-positive test results when comparing responses to screening at 6 weeks and at 4 years of age. This report deals with a portion of data resulting from the much larger longitudinal study. Five aspects of parental response to a false-positive CF From the ‘University of Wisconsin, Madison, Wisconsin and *Medical College of Wisconsin, Milwaukee, Wisconsin. This research was supported by Grant A001 5-01 from the Cystic Fibrosis Foundation, by Grants IROl AM34108, RR03186, and 5 P30 AM-26659 from the National Institutes of Health, by Grant MCJ- 009072 from the Bureau of Maternal and Child Health and Resources Development, Department of‘ Health and Human Services, and by a grant from the Mead Johnson Nutritional Division. Address correspondence and rcprint requests to Dr. P.M. Farrell, University of Wisconsin-Madison, Clinical Sciences Center, Rm. H4/458, 600 Highland Avenue, Madison, WI 53792. zyx 0 1991 Wiley-Liss, Inc.