Long-term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis |
| |
Authors: | Laura Cavanagh Cecilia J Compton Audrey Tluczek Roger L Brown Philip M Farrell |
| |
Institution: | (1) Genetics Center, Orange, CA, USA;(2) 31 Thornford Road, London, SE13 6SG, UK;(3) University of Wisconsin School of Nursing, 600 Highland Ave. K6/346, Madison, WI 53792, USA;(4) University of Wisconsin School of Medicine and Public Health, Madison, WI, USA; |
| |
Abstract: | This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey
of their understanding of cystic fibrosis (CF) genetics and their infants’ false-positive CF newborn screening (NBS) results.
Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received
genetic counseling at the time of their infants’ diagnostic sweat tests had significantly higher long-term retention of genetic
knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information
about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform
(19%) their children about the child’s carrier status. Mean child age at the time of disclosure was 9.2 years. Situational
prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental
education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF
were not associated with parental perceptions of child vulnerability 11–14 years after the testing. Although the sample from
this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test
and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|