Introduction

Newborn bloodspot screening (herein newborn screening), in which a small amount of blood is drawn from a baby's heel and tested for a number of serious and life-limiting conditions, is one of the largest screening programs in the world. Today, newborn screening is implemented across most continents, with almost universal uptake. In the US alone, this equates to roughly 4 million infants per year [1]. Recent years have seen dramatic developments in technological capabilities. These advances have allowed programs to expand the number of conditions screened for at marginal extra cost, with some jurisdictions now screening for over 40 conditions [2].

In the UK, screening has tended to take a more cautious approach, with a limited panel of five diseases including PKU, cystic fibrosis, and MCADD. More recently pilot work has been undertaken to expand this to a total of ten conditions [3]. Moreover, in the UK, in contrast to the US but in-keeping with other European countries such as France [4], screening can only proceed on the authorization of parents on the basis of an informed decision [5]. In England and Wales verbal consent is sufficient, while in Scotland written consent is required [6]. Standard practice dictates that before proceeding to take the blood sample – usually collected by a midwife at the infants' home between the fifth and eight day after birth - health professionals, again primarily the midwife, are expected to provide written information in the form of the Screening tests for you and your baby booklet (http://www.screening.nhs.uk/annbpublications (Accessed 26th June 2012)) and discuss screening with the parents [6].

To date, research has tended to focus on parental knowledge [7], [8] or parental education [9], [10], with little research as to parental decision-making [11], [12]. These studies do not provide clear insight into parental decision-making or whether parents are making an informed decision; assessments of parental knowledge may not report on understanding or decision-making, but more simply reflect an individuals' memory [13]. Moreover, there is a lack of understanding with regard to the impact that recalled information has on the decision-making process [14]. Equally, while several studies indicate when and how parents receive information about newborn screening [15] and the content of this information [9], [16], these studies tell us little about how this information is used to inform decisions about whether or not to accept screening.

Studies from other contexts provide limited insight as determinants of uptake depend on the type of screening test [17]. Termination of pregnancy, for example, has been found to be a highly significant influence in the context of prenatal screening [18], yet is not a salient factor in the context of newborn screening. Indeed, a report produced by the UK Newborn Screening Programme Centre, which sought to summarise the data on communication with parents about newborn bloodspot screening, stated that:

“There is limited research reported about parents and professionals views and experiences of: pre-screening information (and none of antenatal information); consent for screening; the heel-prick itself and subsequent tests; the information provided with screening results; and in particular communication about carrier testing.” [11]

This study sought to address this deficit in order to better understand the factors that influence parental decisions and the ways in which they do this.

This was undertaken as part of a larger exploratory sequential mixed methods approach [19], in which the goal was to explore individual parent experiences of decision making, with a subsequent phase in which a proposed model of parental decision making was evaluated through statistical analysis. This approach was underpinned by a critical realist perspective [20] in which a retroductive logic is used to question the underlying processes or mechanisms that, if they existed, would lead to the phenomenon in question, i.e. the experiences related by the parents [21]. In taking such a realist ontology and accepting a relativist epistemology, we accept that knowledge is socially constructed but that there may be enduring mechanisms that exist to create patterns or regularities of experience that may point to causal factors. Put differently, from individual experiences we may posit mechanisms that could lead to such a phenomena existing. Moreover, this proposed mechanism may gain evidentiary support through the collection of quantitative data that is consistent with the proposed relationships.

This manuscript presents the findings of qualitative research investigating parental decision-making when accepting newborn bloodspot screening and reports key elements of the parent experience, positing relationships between these factors for future evaluation. In doing so, it is the first study to actively explore the decision-making process of parents of children who have undergone newborn bloodspot screening and identify factors that influence decisions to accept screening.

Methods

Parents were recruited between December 2008 and May 2009 and were eligible for inclusion if they had given birth in the previous two years. Parents were excluded if their child was severely ill, had subsequently died, or if they were unable to converse freely in English.

Sampling was purposive in nature [22] and sought to engage with parents of differing socio-economic status, with location and associated area demographics used as a proxy in lieu of individual data. The study took place in the Merseyside and Cheshire region of England, UK. Whilst these conurbations are served by a single screening laboratory, population demographics vary widely as shown in Table 1.

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Table 1. Characteristics of recruitment areas.

https://doi.org/10.1371/journal.pone.0079441.t001

Parents were identified through laboratory records held by the Merseyside and Cheshire Regional Screening laboratory, branches of the National Childbirth Trust (NCT) and local Sure Start schemes. Parents who declined screening were identified through laboratory records and over-sampled in comparison to actual occurrence. All babies whose parents had declined screening were selected for approach (n = 7).

In all cases, parents who met the inclusion criteria and who failed to meet the exclusion criteria were approached by letter in the first instance. This invitation letter introduced parents to the study, as well as providing contact details. Included with the invite letter was a patient information sheet which provided more details regarding the project. If parents wished to take part they indicated this on a reply slip which was returned in an included envelope. This reply slip asked for contact details so that an interview could be arranged. If no response was received within two weeks of sending the letter then a reminder letter was sent. If no response was received following this letter then no further action was taken.

Data collection was by semi-structured interviews [23] undertaken by one researcher (SN). Interviews took place in a location of the interviewee's choosing, which in most cases was their own home. Interviews were audio-recorded using a digital recorder, although in one instance field notes were taken at the request of the interviewee. All recorded interviews were transcribed and anonymised. Transcripts were imported into Atlas.ti Qualitative Data Analysis (QDA) software [24] to assist with management and coding. As a process of validation, transcripts were made available to interviewees for comment [22]. No further comments were received from participants.

Interview data was analysed in an inductive manner using a thematic analysis approach [25]. Thematic analysis shares many features with other methods of qualitative analysis such as Grounded Theory in so far as textual data is coded and labelled and, in an inductive approach, are grounded in the data. The paucity of prior research on newborn screening precluded the use of any pre-determined coding scheme.

As indicated above, the focus of the analysis was not only on the development of themes that would be taken into the second stage of the study but also the development of causal relationships between these. As such it diverges from traditional Grounded Theory approaches where the development of a general or substantive theory is a key goal. This process of coding was iterative with the codes being developed using the constant comparison method allowing for the revision, combination or separation of codes in light of new data [26]. Each newly coded incident was compared both within and across cases to previous incidents in order to refine or revise the code [27]. Following the initial coding of transcripts, codes were then grouped into overarching themes.

Results

All parents who declined screening (n = 7) also declined to take part in the interviews (n = 2) or failed to respond. We therefore report interviews with 18 parents who had accepted newborn screening. This represented an overall response rate of 36.7%, although this varied with a lower uptake of parents identified through laboratory records. Theoretical saturation was reached with no new themes emerging.

Interviews were with both primaparous - first time - parents (n = 12) and multiparous parents - those who had more than one child (n = 6).The majority of interviews were with mothers, although two interviews were conducted with fathers who were spouses of mothers who were interviewed. When both parents were recruited individual interviews were conducted. The greater recruitment with mothers is in keeping with much of the newborn screening literature [28]–[30], but also reflects current practice in which maternal details are recorded within the newborn screening system, a process which is based on the primacy given to mothers as guardians[31]. Only one parent had a child affected by one of the screened for conditions, although this was not their most recent child. Another mother had a child affected by an inherited metabolic condition with similar implications to Phenylketonuria. The interviews ranged in length between twenty and forty five minutes.

As hypothesised by the purposive sampling frame, participants varied in terms of their personal circumstances and experiences as well as age and number of children. However, specific data was not collected on these demographic characteristics and only spontaneously offered data is available. As the data comes from a small sample it would be inappropriate to apply statistical notation, such as percentages, when discussing the thematic analysis and the number of respondents who discussed particular themes. Whilst the intention was to interview parents individually, on occasion partners were present during part of the interview. In all instances additional consents were taken to include their input.

Seven key themes emerged from the interviews as being either explicitly or implicitly causally related to parental experiences regarding consent for newborn bloodspot screening. These themes are classified as Experience, Attitudes to medicine, Information-seeking behaviour, Perceived knowledge, Attitudes to screening, and Perceived choice, all of which ultimately impact on Perceived decisional quality.

Discussion

A number of studies have explored parental knowledge of newborn screening [8], [41], [42] and attitudes towards expansion [43], yet few have considered the decision making process that parents go through when choosing to accept screening. Our study sheds light on these processes indicating that the way screening is presented and offered may be as important as the immediate information provided.

The findings must be considered in light of the limitations of the study. The purposeful sample of interviews, while selected to represent a mixture of geographic locations with associated socio-demographic levels, was not a random population sample. Further limitations are the small sample size and the fact that the small number of parents who declined newborn screening were not willing to take part. Research with parents who declined screening would add an important insight into this process, but engaging with these families is a tremendous challenge.

Whilst risk:benefit analyses were present within the discourses of parents recalling their decision-making, this tended to be limited to hypothetical scenarios of imagined barriers to screening. The question of risk was rarely discussed beyond these hypothetical situations, with the potential benefits being at the forefront of parents’ minds. A key motivator for accepting screening was to act on the information provided in order to benefit the health of the child. This is consistent with a number of other studies [44]–[46], and reflects existing screening criteria [47] and much of the discussion around the expansion of newborn screening panels [37], [48].

However, our study also identified a number of contextual factors that served to inform parental decisions and which have received little attention in the newborn screening literature. In particular we identified attitudes towards the healthcare system, and prior experience of newborn screening as important factors when parents are deciding to accept newborn screening. Additionally, we note the important role played by the relationship with key healthcare providers (here the midwife). While presented as discrete factors, these are highly interwoven with prior experiences and relationships with healthcare providers informing information seeking and perceived knowledge. Conceptually, these findings are consistent with the theory of planned behavior (TPB) [49]. Moreover, they show concordance with previous definitions of informed choice based on the TPB and in which individuals are deemed to have made an informed choice if they have availed themselves of relevant information and made a choice in accordance with their values and attitudes and then implemented this choice [50], [51].

As per the TPB, parents indicated that decisions were influenced by attitudes toward screening, subjective norms in the form of expectations of compliance, but also perceived behavioural control in terms of the perceived ease or difficulty of performing the behavior. The latter is clearly illustrated in the way in which multiparous parents talked about the ease of making screening decisions regarding second or subsequent children. However, while studies of informed choice have suggested that attitudes and knowledge are independent categories [52], our results suggest that the relationship between knowledge and attitudes may be mediated by experience – both personal experience of screening but also embodied knowledge of the healthcare system. Consequently, we may parse out the TPB factor of perceived behavioural control into its constituent elements of perceived availability of choice, ability to make a choice, and experience in order to further examine the interrelationships between these sub-elements.

Experience of the healthcare system was an important factor in contextualizing the provision of the screening program and the formation of trust, but when there was prior personal experience of screening, this played a dominant role in decision-making suggesting that parents may be substituting experiential knowledge for clinical information provided by information materials or the midwife. This is borne out by previous UK studies in which Smith et al., found that parental awareness of screening was higher in mothers with multiple children compared to first time mothers [41], although both groups showed a poor level of awareness. In a later study, established parents were found to be no more knowledgeable of the screened for conditions than were first time parents [53]. Our interviews support these findings and suggest that practitioners should be careful not to assume knowledge in mothers who have already had children go through the screening process. Information provision should be consistent and comprehensive irrespective of parity.

Our data suggest that a potential reason for this, and the greater recollection of experiences with first born children, is that compared to first children, the decision making process for subsequent children is less deliberated. Having already made the decision for their first child, the process of deciding for subsequent children is expedited on the basis of prior personal experience, potentially leading to the lesser recall of information in later children. This mediating role of experience is congruent with research into decision-making for prenatal testing and in which personal experience was a significant factor in decisions relating to prenatal testing [18], [34]. This indication that parental decision making is not principally informed by the immediate information provided by information leaflets or program website is important given the extensive research into the development of patient information materials for newborn screening over recent years.

The relationship with the midwife appeared to play a substantial role not only in terms of information provision but also in terms of reducing the burden of decision making. Indeed, the discussions regarding the receipt of information from the midwife can be seen as an example of what Case has referred to as ‘passive searching’ occasioned by parental attendance at antenatal appointments and scheduled visits by the midwife [54]. This passive receipt of information – as opposed to an approach of actively seeking out information about newborn screening - is consistent with Wilson's model of information-seeking in which non-active modes of searching and acquisition take place [55] and was reported to facilitate information uptake by overcoming barriers to information acquisition, such as the poor way in which leaflets were described as being provided. This underlines the centrality of the midwife as a source of information for parents about newborn bloodspot screening.

However, the parent-midwife relationship was also prominent in the actual decision making process, as has been noted in previous studies [40], [56], [57]. In each, trust in the midwife or healthcare professionals was an important factor, even overriding the need for information in some parents [40]. The present study confirms this important role of the midwife, but also offers an insight into the causal determinants of this trust. Trust was generated through both experience with the midwife, but also the wider health service. For some mothers the perception of the screening as routine, contextualized by knowledge of the ethical processes and financial limitations of the health service, was seen to verify its acceptability. This appears not to be a systematic processing of the immediate information about screening, yet is not a simple heuristic such as ‘experts can be trusted’ [58]. Similar findings have been noted in the context of prenatal screening decisions, and where trust in the healthcare system was found to lead to the perception that screening was a helpful technology [59], [60]. Consequently, individual trust in healthcare professionals and system level trust appear to be mutually reinforcing factors that influence parental decisions to accept screening; health professionals are given a ‘warrant for trust’ by being associated with a health profession yet at the same time the institutional trust is established through interpersonal interactions [61].

The caveat here is that, in the main, the parents who took part in our study did not have a child affected by a screened for condition and so we cannot assume that this finding is generalizable to parents whose first child had a screen positive result. Furthermore, the lack of parents who declined screening means that we are unable to comment on the decision making of this small but important group of parents.

In conclusion, our results are consistent with prior conceptual work regarding informed choice and the important roles played by knowledge, values and attitudes when making decisions regarding population screening. However, our results indicate that while content, in terms of the information provided to parents about the risks and benefits of screening, is important, other contextual factors are also highly influential and play important roles in mediating the relationship between knowledge and attitudes. In particular we note the important role of experience.

As newborn screening programs expand and become more complex with, for example, some conditions being tested for by DNA analysis, it is increasingly important that parents are supported in their decision-making process. Parents who consent to newborn screening should do so with confidence that they understand the procedure and implications. Our research suggests that the interactions of health care professionals with the parents is a key factor in providing support with this process and ensuring that parents feel they are making decisions in an informed manner. In particular, the relationships with healthcare professionals, in this case the midwife, are key to both information gathering and the level of deliberation that is invested in decisions to accept newborn bloodspot screening.

Acknowledgments

We thank Mrs. Elaine Hanmer at Alder Hey Children’s NHS Foundation Trust, Mrs. Liz Eccleston at East Cheshire NHS Trust as well as the NCT and Sure Start branches for their assistance with recruitment. We would also like to thank Dr. Mairi Levitt, Lancaster University, for constructive comments on earlier version of this work.