Parents’ Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease

Abstract

The clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to explore parents’ experiences of receiving the initial positive NBS result for their child with cystic fibrosis (CF) or sickle cell disease (SCD). Semi-structured, qualitative interviews were conducted with 22 parents (12 mothers and 10 fathers) whose children had been diagnosed with CF or SCD via NBS and were under the age of 1 year at the time of interview. The main themes that arose from the data were; parents previous knowledge of the condition and the NBS programme, the method of delivery and parental reactions to the result, sharing the results with others, the impact on parental relationships and support strategies. Study conclusions indicate that most parents thought initial positive NBS results should be delivered by a health professional with condition specific knowledge, preferably with both parents present. Genetic counselling needs to include a focus on the impact of NBS results on parental relationships. Careful consideration needs to be given to strategies to support parents of babies who have positive NBS results both in terms of the psychological health and to assist them in sharing the diagnosis.

The Lived Experience of Parents of Children with Sickle Cell Disease: A Qualitative Study

“…Surprise, shock, guilt, and depression were emotions that parents expressed when they received the initial diagnosis of SCD in their infants [17]. Our study indicated that these emotions continue to be vivid in the parents' memories years after their child's initial diagnosis in infancy.…”

They know it's safe – they know what to expect from that face: perceptions towards a cognitive‐behavioural counselling programme among caregivers of children with cystic fibrosis

“…Chudleigh et al . () also conducted a qualitative study on perceptions of 22 caregivers towards genetic newborn screening in CF and sickle‐cell disease, employing a grounded theory methodology. Caregivers believed that a positive diagnosis should be delivered by a competent health professional who has disease‐specific knowledge in the presence of caregivers.…”

Psychological Impact of NBS for CF

“…Receiving the CF NBS result from a health professional perceived to be less informed and therefore unable to answer parental questions about CF was also undesirable and had the potential to impact on future relationships with that health professional [19]. It should be noted that the sample size in this study was small but reflects the findings of other studies.…”

“…This also reportedly had the potential to impact on parental relationships as the mother then became responsible for informing the baby's father of the positive CF NBS result. These findings were not reported by the parents of babies who had received a positive NBS for SCD who described being aware of their 'risk' due to the results of antenatal screening [19]. Therefore they were less shocked by the result but were more concerned with the stigma associated with a diagnosis of SCD, which has been commonly cited in the literature [20].…”

“…A study in the UK to explore parents' experience of receiving a positive NBS result used semi-structured interviews with 12 mothers (five with a child with CF and seven with a child with SCD and 10 fathers (five each with a child with CF or SCD) of children diagnosed via NBS [19]. The mothers of infants with a positive NBS for CF found being alone when they received their child's positive CF NBS result upsetting and fathers expressed distress at not being able to support their partner during this time.…”