Parents’ responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening

Abstract

Universal newborn screening for sickle cell disorders and cystic fibrosis aims to enable the early identification and treatment of affected babies. Screening can also identify infants who are healthy carriers, with carrier results being the commonest outcome for parents and professionals to discuss in practice. However it is unclear what the effect will be on parents on being informed of their baby's carrier result. Semi-structured face-to-face interviews were conducted with a purposeful sample of 67 family members (49 mothers, 16 fathers, 2 grandparents) of 51 infants identified by universal newborn screening as carriers of cystic fibrosis (n=27) and sickle cell (n=24), across all health regions in England. Data were analysed by thematic analysis with subsequent respondent validation. Untoward anxiety or distress among parents appeared influenced by how results were conveyed, rather than the carrier result per se. Parents who had more prior awareness of carrier status or the possibility of a carrier result assimilated the information more readily. Being left in an information vacuum while awaiting results, or before seeing a professional, led some parents to fear that their child had a serious health condition. Parental distress and anxiety appeared mostly transient, subsiding with understanding of carrier status and communication with a professional. Parents regarded carrier results as valuable information and sought to share this with their families and to inform their children in the future. However parents needed greater support after communication of results in considering and accessing cascade testing, and negotiating further communication within their families.

Provision of information about newborn screening antenatally: a sequential exploratory mixed-methods project

“…However, in terms of assessing whether or not someone has made an informed choice or is trying to reduce the potential psychological harms of NBS, what is important is whether or not parents had sufficient information to be prepared or to make a sufficiently informed decision. 13 This is of concern as, although variation existed in terms of preferences for consent models, knowledge was universally valued. 12,19,61 The finding repeated throughout this review, however, is that data suggest that parents did not have full knowledge of what was happening.…”

“…105 It has been widely used in evaluative and health-care studies similar to this one. 13,106 Thematic analysis was chosen as it allowed for an understanding of the data to be developed and patterns within the thoughts and views of participants to be examined. 105 It was also chosen as it would ultimately allow for the views and opinions of all participant groups to be expressed and heard, in their own way.…”

A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status

“…12 Aligning with the British Medical Association 16 and the premise of the 'zone of parental discretion', 30 parents were believed to have fundamental rights to make testing decisions 12 and some professionals consequently provided testing upon parental request despite advising that it should be deferred. 14 Doing this maybe beneficial, as failure to test can create tension between parents and professionals, 13,22 and be seen as negating the importance of taking action which is in the best interests of the family 30 or as failing to consider parents' knowledge of their child's best interests. 16,31,32 Yet, although parents may have responsibilities for their child, the ESHG or BSHG do not suggest that parents have intrinsic rights over them and it is recommended that professionals should protect children from decisions that are not in their best interests and have no clear benefit.…”

“…Although the British Society for Human Genetics (BSHG) and European Society of Human Genetics (ESHG) suggest that professionals have responsibilities to protect children from decisions which are not in their best interests, 4,9 the British Medical Association advise that, as the natural decision makers, parents are best placed to make decisions for their child and their wishes should be respected. 16 Children are believed to receive tests for some autosomal recessive carrier traits, 17,18 yet few studies internationally have explored why testing is provided for some children 14,[19][20][21] but not for others, 22 how professionals navigate guidelines 20 and manage conflict with parents, 14 or how they communicate with children about testing. 11,23 Newborn screening (NBS) in England identifies around 9300 newborns with SCT annually.…”

“…11,23 Newborn screening (NBS) in England identifies around 9300 newborns with SCT annually. 24 This can prompt parents to seek testing for older children, 22 however, little is known about the childhood SCT testing processes. The current study aimed to explore how professionals across the United Kingdom make decisions to test children for SCT, with a view to examining the use of professional guidelines in decision making, management of discussions with parents and elictation of children's autonomous decision making.…”