Sensitive diagnosis lessens parents’ upset over cystic fibrosis

Research shows that the way parents are told their child may have cystic fibrosis can affect the depth and duration of their distress

Study examines the impact on parents of receiving an inconclusive diagnosis that their newborn may have the genetic condition cystic fibrosis.

Johnson F, Southern K, Ulph F (2019) Psychological impact on parents of an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis: A qualitative study. International Journal of Neonatal Screening. 5, 2, 23. doi: org/10.3390/ijns5020023

Blood spot screening of newborns (NBS) seeks to identify presymptomatic babies affected by genetic or congenital conditions, and early diagnosis leads to better health outcomes for the child (Public Health England 2018).

NBS can now identify abnormalities of uncertain clinical significance (Kammesheidt et al 2006). Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID) is a designation given to infants with a positive NBS result but not a definitive diagnosis of cystic fibrosis.

• RELATED: Transition and transfer of young people with cystic fibrosis to adult care

The number of children designated as CFSPID who go on to develop cystic fibrosis varies, and presently no clear indication can be given to parents about the likelihood that their child will develop cystic fibrosis or when they might show symptoms in the future (Southern et al 2019).

There is no clear guidance about the content of communication with parents when their child receives a screening result of CFSPID. This is important, as research with parents who have received carrier or false positive results after NBS suggests medically benign results may have a significant psychological impact (Farrell et al 2017, Borowitz et al 2009).

Aim

The aim was to address the gap in communication guidance with parents about CFSPID through an in-depth exploration of the psychological impact of a CFSPID.

Method

This qualitative study used interpretative phenomenological analysis. Semi-structured interviews were conducted with parents of children who had received a CFSPID designation. Parents were recruited through a cystic fibrosis clinic in north west England. Three couples and two mothers participated.

Findings

Themes included:

• ‘The way we were told’. Diagnosis as a traumatic event, focusing on how distressed and dissatisfied parents were by communication of the the initial screening result.
• Facing and challenging traditional ideas about health and illness. This explored problems due to CFSPID not fitting the commonly accepted medical model.
• Making certainty out of uncertainty. This looked at strategies parents developed to adapt to uncertainty about their child’s prognosis.

Conclusion

Informing parents of their child’s NBS CFSPID results caused them distress that began during the first communication of the result and persisted afterwards. Alternative approaches to the delivery of CFSPID results might reduce this effect.

References

• Borowitz D, Parad R et al (2009) Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. Journal of Pediatrics. 155, 106-116. doi: 10.1016/j.jpeds.2009.09.003
• Chudleigh J, Buckingham S, Dignan J et al (2016) Parents' experiences of receiving the initial positive newborn screening (NBS) result for cystic fibrosis and sickle cell disease. Journal of Genetic Counselling. 25,6, 1215-1226
• Farrell P, White T, Ren C et al (2017) Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. Journal of Pediatrics. 181S, S4–S15. doi: 10.1016/j.jpeds.2016.09.064
• Kammesheidt A, Kharrazi M, Graham S et al (2006) Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens – implications for newborn screening. Genetics in Medicine. 8, 9, 557–562
• Public Health England (2018) Newborn Blood Spot Screening: Programme Handbook. PHE, London
• Southern K, Barben, J, Gartner S et al (2019) Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition. Journal of Cystic Fibrosis. S1569-1993, 19, 30070-0. doi: 10.1016/j.jcf.2019.04.010
• Tluczek A, Clark R, McKechnie A et al (2015) Factors affecting parent-child relationships one year after positive newborn screening for cystic fibrosis or congenital hypothyroidism. Journal of Developmental and Behavioral Pediatrics. 36, 1, 24-34. doi: 10.1097/DBP.0000000000000112
• Ulph F, Cullinan T, Qureshi N et al (2015) Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening. European Journal of Human Genetics. 23, 4, 459-465. doi: 10.1038/ejhg.2014.126

Jane Chudleigh is programme director and senior lecturer in child health, City University of London. She contributed this article on behalf of the RCN’s Research in Child Health community