Research and commentary

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

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

Picture shows a newborn baby undergoing blood spot screening. Research shows that the way parents are told after screening that their child may have cystic fibrosis can affect the depth and duration of their distress.
Picture: Alamy

 

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.

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.

Messages must be crafted carefully to minimise distress

Poor or inappropriate communication strategies regarding positive blood spot screening of newborns (NBS) results can influence parental outcomes in the short term (Ulph et al 2015) but may also have a longer-term impact on children and families (Tluczek et al 2015).

Evidence suggests the distress caused can manifest in several ways, including arguments between couples that include apportioning blame (Chudleigh et al 2016), alteration of life plans and inability to conduct tasks of daily living such as going to work or socialising (Ulph et al 2015), long-term alterations in parent-child relationships (Tluczek et al 2015) and mistrust and lack of confidence affecting relationships with healthcare staff (Chudleigh et al 2016).

Child’s interaction with others reduced

There is also evidence of increased parental distress resulting in parents reducing their child’s interaction with others, particularly in the case of cystic fibrosis (Ulph et al 2015).

Communication of a cystic fibrosis screen positive, inconclusive diagnosis designation (CFSPID) to parents as a result of NBS is a task requiring subtlety and skill. It demands thought, preparation and evidence to minimise potentially harmful negative consequences.


References


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

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