Psychological Impact on Parents of an Inconclusive Diagnosis Following Newborn Bloodspot Screening for Cystic Fibrosis: A Qualitative Study

Abstract

Genetic results of uncertain clinical significance are being returned to parents following newborn screening, representing a paradigm change in how society considers health and illness. ‘Cystic Fibrosis screen positive, inconclusive diagnosis’ (CFSPID) is a designation given to newborns with a positive screening result for, but not a definitive diagnosis of, cystic fibrosis. We explored the psychological impact of receiving a CFSPID result on parents. Five semi-structured interviews were conducted with eight parents whose children have CFSPID. Interpretative phenomenological analysis identified these themes: “The way we were told”: ‘diagnosis as a traumatic event’ focused on how parents were distressed and dissatisfied by the initial screening result communication, ‘Facing and challenging traditional ideas about health and illness’ explored the emerging problem of how CFSPID does not fit the commonly accepted medical model, and ‘Making certainty out of uncertainty’ explored the varying strategies parents developed to adapt to the uncertainty regarding their child’s prognosis. Findings suggest that CFSPID results caused parents’ distress, initiated with the first communication of the result and persisting thereafter. Our data suggests approaches to the delivery of CFSPID results that may reduce the impact. Work is needed to close the gap between healthcare advances and societies commonly held medical model.

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

“…With regard to the risks of CF NBS, many investigations worldwide have focused on potential psychosocial harms [25,26], especially in false-positive families, but it should be recognized that these risks accompany every screening test whether infants or older individuals are being screened. However, some have argued that CF NBS deserves more attention than that given to other conditions, and certainly there have been more studies on the potential risks.…”

Psychological Impact of NBS for CF

“…The findings of the studies presented above demonstrate the importance of carefully considered information provision to reduce psychological impact when imparting positive CF NBS to parents. The method of delivery of information would seem to be far less important than the knowledge of the person responsible and their ability to answer parents' questions and provide reassurance [19,[21][22][23], particularly if a degree of uncertainty is present, such as with CFSPID results [32]. Despite this, the findings of a recent study found that the CF NBS result is communicated by a range of health professionals internationally and that this may not always be the most appropriate or knowledgeable person but is influenced by many factors, including geographical/logistical, legal, financial and cultural constraints [35].…”

“…Ensuring the most appropriate person communicates a positive CF NBS result is particularly important in cases where there may be a degree of uncertainty, such as for false positive CF NBS results or a CFSPID designation [31,32]. Evidence suggests that good information provision and timely confirmatory testing can mitigate against the long-term psychological distress that has previously been considered to be associated with a false positive CF NBS result [16,27,28].…”

“…Moreover, the lack of existing knowledge about the prognostic implications of the identified mutations left health professionals and parents with little certainty about the implications for the infants' future health trajectory [31]. A more recent study with eight parents (three couples and two mothers) supported these initial findings and suggested that CFSPID results caused parental distress, initiated with the first communication of the result and persisting thereafter, but that approaches to the delivery of CFSPID results might reduce the impact [32]. This supports the findings of studies discussed above regarding the importance of the approach used to deliver positive NBS results for other conditions but, perhaps more importantly, the knowledge of the person delivering an uncertain result and their ability to alleviate the parental anxiety associated with this uncertainty [10,19,21,22].…”

It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance

“…However, infants with CFSPID are apparently healthy, asymptomatic infants who are essentially diagnosed based on their newborn screen, as further tests have been inconclusive. CFSPID sounds like a disease, which creates anxiety and confusion for families [9]. Yet, such infants may go on to either develop symptoms of CF or remain healthy.…”