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

Jane Chudleigh,Sarah Buckingham,David Rees,Hilary Wyatt,Alison Metcalfe,Kemi Johnson,Sandra O'Driscoll,Jo Dignan

doi:10.1007/s10897-016-9959-4

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.

Highlights

Newborn Screening (NBS) in the United Kingdom (UK) allows for presymptomatic identification and early initiation of treatment for babies affected by genetic or congenital conditions such as sickle cell disease (SCD) and cystic fibrosis (CF) (UK Newborn Screening Programme Centre 2012).NBS for SCD was introduced in the UK in 2001 and in 2004, the first antenatal and NBS programme for women and children with SCD and thalassaemia was set up in response to government recommendations (DoH 2000)
The present study demonstrated that for parents of babies with CF and SCD, the positive NBS result was unexpected and caused them some degree of distress
There is no doubt that the NBS programme for CF and SCD in the UK has revolutionised the care for children who are found to be affected by these conditions

Summary

Introduction

NBS for SCD was introduced in the UK in 2001 and in 2004, the first antenatal and NBS programme for women and children with SCD and thalassaemia was set up in response to government recommendations (DoH 2000). This was the world’s first antenatal and NBS programme where the results of parental tests were ‘linked’ with those of their baby. If the mother is identified as a carrier of SCD, the baby’s father is offered a blood test to identify if he is a carrier. If both parents are found to be carriers, they should be offered genetic counselling where genetic risk will be discussed

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Conclusion