Psychological Impact of NBS for CF

Abstract

Newborn screening for cystic fibrosis has resulted in diagnosis often before symptoms are recognised, leading to benefits including reduced disease severity, decreased burden of care, and lower costs. The psychological impact of this often unsought diagnosis on the parents of seemingly well children is less well understood. The time during which the screening result is communicated to families but before the confirmatory test results are available is recognised as a period of uncertainty and it is this uncertainty that can impact most on parents. Evidence suggests this may be mitigated against by ensuring the time between communication and confirmatory testing is minimized and health professionals involved in communicating positive newborn screening results and diagnostic results for cystic fibrosis to families are knowledgeable and able to provide appropriate reassurance. This is particularly important in the case of false positive results or when the child is given a Cystic Fibrosis Screen Positive, Inconclusive Diagnosis designation. However, to date, there are no formal mechanisms in place to support health professionals undertaking this challenging role, which would enable them to meet the expectations set out in specific guidance.

Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator‐related metabolic syndrome/CF screen‐positive, inconclusive diagnosis

“…Parents’ perception of the initial message they receive is that the child may be affected by CF; as such, parental distress may be similar to that of parents of children with definitively diagnosed CF. Furthermore, anxiety triggered by a CRMS/CFSPID label endures in parents 15,16 . Shortening the time to definitive diagnosis of a CRMS/CFSPID subject should be a priority of the care centre.…”

“…Furthermore, anxiety triggered by a CRMS/ CFSPID label endures in parents. 15,16 Shortening the time to definitive diagnosis of a CRMS/CFSPID subject should be a priority of the care centre. For these reasons, differentiating the timing of the ST could be useful.…”

“…Further, STs may be performed annually if SC values persist in the inconclusive range or the specialist is concerned about the clinical progress of disease 9,14 . This approach is adequate in most cases; however, inconclusive diagnosis may persist in cases of CRMS/CFSPID with none or one CFTR variant after extended genetic analysis (potentially healthy or healthy carrier subjects), leading to persisting uncertainty and distress for parents 15,16 . It could also delay a CF diagnosis in cases involving CRMS/CFSPID infants with initial SC concentration(s) in the range of 50–59 mmol/L, with a recent retrospective study reporting that the latter group had a high likelihood of being diagnosed with CF, thus requiring closer monitoring for CF with strong consideration for earlier repeat ST 17 .…”

Why Do We Screen Newborn Infants for Cystic Fibrosis?

“…Consistent with the article above is a detailed review of the psychological impact of NBS for CF by Jane Chudleigh and Holly Chinnery [ 10 ]. A better understanding of the journey that the families of infants with a positive NBS result go on enables CF teams to predict and ameliorate unnecessary distress.…”

Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow‐up and treatment

“…Much can be learned in this respect from more common genetic disorders such as cystic fibrosis. A recent series of articles describes the psychological burden of false-positive results or when a child is given a 'screen positive, inconclusive diagnosis designation' [9]. Evidence suggests this psychological distress may be mitigated by rapid and clear communication through knowledgeable healthcare professionals.…”