Background

Antenatal care aims to provide positive pregnancy outcomes and experiences for women [1]. Antenatal ultrasound is a recommended aspect of care for screening of congenital abnormalities (inborn defects that affect a child’s physical structure or function) [1, 2]. Congenital anomalies are a significant cause of infant and child mortality and morbidity worldwide [2]. The most common fetal anomaly is congenital heart disease (CHD) [2]. Outcomes for CHD have improved with the modernisation of diagnostic and surgical methods [3]. Recent advancements have also improved the outcomes of the most severe CHD subgroup, Critical Congenital Heart Disease (CCHD). CCHD is a term for congenital cardiac diagnoses which require intervention in the neonatal period for survival [3, 4]. Infants within the CCHD group who function on a single ventricle, termed Hypoplastic Left Heart Syndrome (HLHS), have the highest risk of mortality and are among the most medically complicated and controversial to manage [4, 5].

The parental experience of decision-making following a diagnosis of a fetal abnormality is complex and challenging [6,7,8,9]. Scholars and clinicians acknowledge that receiving an unexpected diagnosis of congenital heart disease is significant, usually resulting in parental grief and adaptation [8,9,10]. For more than fifty years, investigators have endeavoured to understand the nuclear (couple and dependent children) and wider extended family experience when parents receive a diagnosis of a congenital cardiac anomaly [11]. The continuum of intense stress from the time of life-threatening (often fatal) diagnosis onwards leads to anxiety, depression and post-traumatic stress disorder, negatively affecting parenting practices and infant-parent bonding [12,13,14,15,16,17,18,19]. Despite increased knowledge about how mothers adapt following a fetal anomaly diagnosis, evidence about the whole (nuclear and wider) family experience of a life-threatening congenital cardiac diagnosis and treatment along the continuum of this distressing journey is not well understood [18,19,20,21,22,23,24].

The healthcare provider is integral to how the family experiences healthcare. Exploring healthcare provider experiences of diagnosing and managing CCHD infants could give insight into how values and perceptions may differ from patients during the decision-making process [25,26,27,28,29]. As the number of studies investigating the family experience of CCHD children increases, it would be expected that the physician stance and response increasingly would cater to the needs and lived experiences of families of CCHD infants. However, recent evidence suggests differing perspectives between parents and healthcare professionals caring for children with advanced heart disease in the hospital setting [30]. The gaps identified in patient-doctor communication related to key areas of cardiac disease status and, importantly, areas of prognosis [30]. Healthcare workers who care for infants with precarious survival may also feel emotionally burdened, with evidence supporting early input from palliative care facilitating coping for both family and provider [31].

Understanding provider and patient family experiences of the most life-threatening subset of the commonest fetal anomaly, CCHD, is, therefore, essential to inform best-practice healthcare delivery and facilitate coping. Thus, we aimed to synthesise current understanding about the family and healthcare provider experience of critical congenital heart disease diagnosis and management.

Methods

We used a systematic integrative review approach to synthesise current evidence exploring the families’ (nuclear and wider family) and healthcare workers’ experiences of CCHD diagnosis and management. Integrative review uses a systematic approach to incorporate studies with diverse methodologies to draw upon a wide range of evidence [32, 33]. The resultant thematic synthesis of information aims to comprehensively deepen the knowledge and understanding about a particular healthcare phenomenon [32, 33].

Search Strategy

The following search strategy used the online databases MEDLINE (Ovid), PsycINFO, Cochrane, cumulative index to nursing and allied health literature (CINAHL Plus) and two journals, the Journal of Indigenous Research and Midwifery Journal. These topic specific journals were searched to ensure a wide net was cast. Searches were carried out via title and keyword with search terms designed to capture variants of the review question with appropriate wildcards inserted to search for word truncations or variations in key terms (Table 1). Papers prior to 1990 were not searched to retain relevance to current systems and practice and ensure clinical applicability of search results.

Table 1 Search terms
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Pre-determined inclusion and exclusion criteria were applied to screen for eligibility by title, abstract, and full text (Table 2). Screening and final cross-checking was carried out independently by SW and OI, with consensus on the final 22 included articles confirmed by KW following discussion where ambiguity existed. One first author was contacted to confirm inclusion criteria were met [34].

Table 2 Integrative review inclusion and exclusion criteria
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Data Extraction

Data extraction was completed using a pro forma, capturing relevant factors of the paper, study design and limitations [35]. Overall data relating to the family or provider experiences of CCHD diagnosis and treatment was noted.

Data Evaluation

Study quality was independently assessed by SW and OI incorporating three critical appraisal approaches: the critical appraisal skills programme (CASP) [36]; the mixed methods appraisal tool (MMAT) [37] and a method developed by KW incorporating CASP with a quality framework suggested by Hawker and colleagues to systematically review studies from different paradigms [38]. Included papers were assessed by sections including methodological rigour, relevance to the research aim, appropriateness of the recruitment strategy, the standard of data collection and analysis, evidence of ethics and attention to potential biases such as whether there was reflexive analysis and study implications. The studies evaluated via these criteria were assessed by a categorical scoring system as good, fair, poor or very poor using a score out of 40. Quality was cross-checked between the two assessors and a consensus reached by a third assessor (KW) where ambiguity existed. The third assessor (KW) also cross checked 22% of the studies independently at random to ensure a rigorous and replicable assessment was reached.

Data Synthesis

The thematic data analysis occurred primarily by SW in four phases (Table 3) [39]. Data were extracted and tabulated in the form of base codes followed by identification of common themes. Tabulation allowed themes to be clearly grouped and then refined. Themes were refined with input from OI and KW and finalised by consensus between KW, OI and SW.

Table 3 Phases of synthesis
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Results

There were 1844 total studies identified during the initial electronic database search: 802 from Medline; 45 from PsycINFO; 685 from Cochrane, and 312 from CINAHL Plus. After exclusion of replicas, 1817 studies remained (Fig. 1).

Fig. 1
figure 1

Flowchart showing literature selection

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The 22 included articles’ characteristics are summarised in Table 4. The majority of the 22 papers included in the review used qualitative methods. Three studies conducted focus group interviews [40,41,42], one study analysed journal entries [43], and the remainder conducted interviews. Two studies were mixed methods, including a quantitative arm with self-reported psychometric testing [44, 45]. One study triangulated their findings by assessing audio recordings of participant medical consultations [34]. Four studies had longitudinal data [42, 45,46,47], with two studies reporting on components of larger studies [42, 47]. Eighteen articles gathered cross-sectional information. Recruitment often occurred at large tertiary teaching hospitals and studies were conducted in Australia [44, 48], Canada [49, 50], Korea [51, 52], Norway [53], Sweden [54,55,56], Switzerland [57], the United Kingdom (UK) [34, 45, 58] and the United States of America (USA) [40,41,42,43, 46, 59, 60].

Table 4 List of included articles and their characteristics
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The overall quality of the included studies was generally good, apart from three of fair quality (Table 4) [34, 49, 53]. Participants were primarily English-speaking, married and well-educated. Studies lacked representation of minority ethnic groups, non-English speakers, single parents, and lower socioeconomic groups. Ten studies were retrospective narratives limited by possible recall bias. One study explored provider viewpoints on CCHD management, specifically in relation to the addition of mental health support services [60]. Twelve studies targeted CCHD alone, with a sub-group only assessing HLHS [44, 48, 49, 53, 58], the remaining ten included all CHD types. Common among studies was their focus on a discrete aspect of the experience (for example, the father’s experience or critical care experience).

Studies included in this review investigated the experience of diagnosis and/or management of CCHD for families and/or providers (data extraction summarised in Table 5). The healthcare provider perception was sought in one study, however, no insight was given into the provider experience, only the healthcare provider perception of the family experience. [60]

Table 5 List of articles and their key outcomes and data relating to the review question
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We found that experiencing an unexpected diagnosis of CCHD universally is devastating and shocking for families. Thematic analysis revealed three themes:

  1. (1)

    Experiencing the diagnosis and treatment of a CCHD child significantly impacts parental health and wellbeing.

  2. (2)

    Parental responses and adaptation can be influenced by how healthcare and information is communicated and provided, and

  3. (3)

    parental responses and adaptation can be influenced by how and when support occurs.

Theme 1 Experiencing the diagnosis and treatment of a CCHD child significantly impacts parental health and wellbeing

Families of children diagnosed with CCHD were significantly impacted in multiple spheres, including physical and mental health, family functioning and relationships [35, 37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55] There was also significant evidence of asynchronous responses between mothers and fathers, indicating that they respond differently to experiencing a diagnosis of CCHD and the process that follows [40, 41, 48, 51, 52, 59]. Intense emotional responses were universal between parents, including grief, shock, distress, depression, and anger [35, 37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55] Fathers were more likely to become angry than mothers [40]. Displaying characteristics of post-traumatic stress were common, with trauma resulting from diagnosis, seeing their children unwell (particularly in the unfamiliar intensive care setting) and unexpected events [44, 45, 48, 60]. Further stressors included the loss of their parenting role, painful time-pressured choices and feeling helpless from the loss of control [41, 44, 48, 58]. Loss of control was also of particular concern to fathers of CCHD infants [51, 52]. Mothers often felt guilty that their child’s CCHD was their fault, with the majority feeling the decisions regarding the management of the child’s condition (the choice of termination, continuation of pregnancy and active treatment or palliation) was ultimately their responsibility [43, 51, 58].

Fear was also a dominant feeling among parents of children with a CCHD diagnosis [40, 43, 47, 50, 51, 54, 57]. This fear became overwhelming at times, particularly of their child dying [45, 48]. There was also fear for the future and overall functioning of their child [40, 43]. This overwhelming fear was often coupled with uncertainty [34, 40, 42, 43, 46, 47, 49, 57]. Uncertainty was commonplace in experiencing the journey of having a CCHD infant—this uncertainty coupled with fear led to significant anxiety [40, 45]. This anxiety, in addition to the intense grief response, often led to parents describing physical impacts on their health such as exhaustion, feeling faint and tired. Compacting these physical sensations was the lack of self-care for their everyday physiological needs such as eating regularly and obtaining effective sleep [41, 42, 44, 45, 48].

Relationships were subsequently affected from experiencing a CCHD diagnosis, particularly within the nuclear family unit. There was evidence on the impact of the diagnosis on marriage/partnerships (positive and negative) from the strain of the experience and pressure from decision making [49, 57, 59]. Other siblings of the CCHD infant were also affected, with parents becoming less present but still having family commitments and demands, which needed to be balanced with the urgent demands of the CCHD child [48, 49, 51, 56]. Nuclear family functioning was also impacted by the demands of informing family and friends, with support for this greatly appreciated [57].

Theme 2 Parental responses and adaptation can be influenced by how healthcare and information is communicated and provided.

The healthcare provider team is central to parental experiences of the diagnosis and management of their CCHD infant [53]. The healthcare team's communication, interaction, and framing of medical information is critical to maintaining a trusting patient-provider relationship [44, 57, 60]. The relationship with the care team influences the family’s ability to cope and how they respond and experience the critical diagnosis of their child [44, 57, 60].

Clear and informative provider communication was paramount to the family experience [46, 54, 58]. Families often commented on the communication from the healthcare team, particularly the lead provider [41, 42, 44, 46, 54, 57,58,59,60]. Patient families appreciated timely information communicated in full and positioned impartially [46, 58]. The use of words without subjective negativity was valued, for example, ‘difference’ rather than ‘defect’ [51]. There appeared to be a lasting impact of negatively perceived or pessimistic counselling with families remembering words to describe their child’s diagnosis vividly many years after the fact [53, 58]. The information required by families needed to be matched to their needs to not be too overwhelming or uninformative, and vague [56]. The information was also appreciated when conveyed with respect, including respect for a parent’s religious/spiritual or belief system with empathetic non-verbal cues [54, 60]. When there was perceived disrespect or withholding of information, fragility in the patient-provider relationship occurred with distrust in individuals and the health system [57]. It was unclear whether initial distrust in the health system influenced this response.

Repeated discussions regarding the diagnosis and management of CCHD infants was important to parents [54]. This included drawn diagrams, written information (particularly in the native tongue) and recommended websites [34]. Families felt empowered to make more informed and confident decisions based on correct information from validated sources [34]. Further, clearly communicated logistics were helpful for families, such as what was required of them and how to balance other commitments [56]. For example, having open access to a specialised nurse was helpful during pregnancy after a prenatal diagnosis of CCHD occurred [56]. Consistency was also key to improved experiences. [42, 60] This included consistency of information delivered and the health care professionals providing the care [42, 60].

Additionally, the location in which information and care was delivered impacted the parental experience [42, 44]. The environment in the hospital setting (the ward and intensive care particularly) limited privacy and was overwhelming for families with unfamiliar medical equipment attached to their unwell infant [44]. Infant-parent bonding was also compromised due to the physical constraints of medicalisation [44]. Parents reported barriers in forming an intimate emotional bond with the CCHD infant secondary to their reduced parental role alongside reduced time and space to do so [40, 44, 48, 49, 57].

Theme 3 Parental responses and adaptation can be influenced by how and when support occurs

After the life-defining moment of diagnosis of their child with CCHD occurs, parents undertake a journey of adaptation [43,44,45,46,47, 50,51,52] How and when support occurs can shape how parents respond and adapt to their infant’s CCHD diagnosis [34, 46, 54, 60]. There are critical time-points when parental stress peaks and support needs appear to intensify [34, 46, 54, 60]. These time-points were identified as the time of diagnosis, decision-making (including deciding to terminate), birth or termination, at the point of surgery, entering intensive care post-surgery and discharge home [34, 46, 54, 60].

The way parents make sense of the CCHD diagnosis differs due to multiple factors such as underlying belief systems, available support networks and economic positioning [43, 46, 59]. Family functions also appear to impact adaptation responses as more dependants or those who live rurally appear to be more severely affected [44]. Therefore, practical supports such as economic (particularly for fathers and their work commitments), caregiving and informing and preparing for the expected and unexpected was appreciated [51, 56]. Particularly valued by families was support in the form of adequate information, compassion, thoughtfulness, and adequately managing uncertainty [34, 46, 55]. Further information on where to access peer support from individuals who had been in similar circumstances was also largely beneficial. Peers’ stories, often obtained from social media, the internet, and blogs, were valued by parents as they portrayed CCHD from another perspective than that of the healthcare system [56, 59, 60].

Discussion

This review has identified the available evidence on how the family of an infant with CCHD experiences the diagnosis and subsequent management (22 studies), and the provider experience of CCHD diagnosis and management (one study). [13, 61, 62] This one-sided narrative depicts a possible disconnect between what families are experiencing and what providers perceive in healthcare delivery. The repercussions of the current research not revealing both the provider and the family experiences is that how the healthcare providers and system is perceiving and responding to the family perspectives cannot currently be clearly understood.

This review has also highlighted that minority groups, immigrants and those in more deprived social circumstances are currently underrepresented in the available research, even though these groups experience racism, classism and resultant distress. [13, 61,62,63,64] The impact of this current unavailability of literature on the broad range of family experiences on critical congenital heart disease health care interactions is that important issues relating to these underrepresented groups remain concealed.

A recent literature review of 94 papers on families’ experiences of having a child with any CHD (not just critical types) supports the significant psychological effects expressed in this review, including stress, anxiety, and depression [65]. Intense grief reactions occur following the traumatic news of a life-limiting fetal anomaly regardless of the decision to continue the pregnancy or terminate [18]. Potential harm from a disconnect of beliefs and values between the provider and patient can occur [66]. Future improvements in care quality during a life-defining event may facilitate a less traumatic experience, further assisting parental adaptation and care engagement [67]. Parents with fewer resources for support psychosocially are more at risk of lower wellbeing over time [68]. Wider literature also supports our finding on gender differences in suffering experiences and subsequent coping methods, which is influenced by their role in family functioning, sociocultural expectations, and knowledge [69,70,71].

Care quality impacts the experiences of families with a CHD child, as found in one study included in this review [65]. Parental responses and adaptation can be influenced by the quality of healthcare information and the manner in which it is communicated and provided [72,73,74]. Early, honest, impartial communication is integral to establishing a trusting relationship [75, 76]. Differing levels of trust are associated with different patient preferences in decision making [77]. A complex shift in communication is required to ensure uncertainty in diagnosis and prognosis is discussed and managed appropriately [78, 79]. Intensive care is a particularly important and parental fear-inducing setting where communication preferences currently are not met adequately, particularly for minority families [80, 81].

Parental responses and adaptation can be influenced by how and when support occurs. Holistic support of families is required, including caring for the family’s financial needs. The cost of living with, or caring for, a child with CHD is high, with evidence of a high personal burden related to economic effects from high disruptions to daily living and high health care utilisation [82, 83]. A review of eight articles describing parental experiences with a child undergoing heart surgery reported a major theme as ‘balancing the parental role’ [84]. This is in keeping with our findings that supporting the parental role and family functioning is vital to how parents experience CCHD diagnosis and management. Family psychosocial coping varies over time making the timing of support crucial [85, 86]. Healthcare systems need targeted and timely interventions to accommodate this fluidity in family needs. Holistic, culturally appropriate support, including facilitating parent-infant bonding (particularly for Indigenous peoples), could be developed—particularly as it has been associated with reduced maternal anxiety and improved attachment in CCHD [87, 88].

Evidence about provider perspectives on caring for and managing CCHD is lacking. The sparse data drawn from this review included data from health care providers who manage HLHS but without a specific focus on their experiences [5, 89]. Although the goodwill of health care providers is clear to families, their insight is lacking in some areas [25, 28, 90, 91]. There is an accordance of opinions of health care providers and parents regarding a child’s perceived quality of life in CHD but further insight into why consultations can appear ad hoc is required [25, 28, 90, 91]. This review is limited by search terms covering the umbrella term CCHD; therefore, some available evidence may have been missed by not searching each individual diagnosis. Similarly, some non-English speaking participant groups may not be captured in this review by the use of the English language inclusion criteria.

Future Research Recommendations

An important focus for future inquiry is minority ethnic groups, non-English speaking, single parents, and low socioeconomic groups’ perspectives of CCHD diagnosis and management. Additional prospective longitudinal data on experiences of the pathway from prenatal diagnosis through to early childhood for parents with a CCHD child are needed. Integral to understanding this topic is understanding provider perspectives and experiences of CCHD care across the continuum (from diagnosis, counselling, and subsequent management). Broader research strategies could inform quality improvement so healthcare systems can function optimally, meet the needs of patients effectively and minimise potential harm. With future research aimed at understanding the full spectrum of family information and support needs, steps can be taken in maximising the effectiveness of interventions in these areas [92, 93]. Timely studies are also required due to the evolution of maternal–fetal surgery potentially contributing an added layer of management options for CCHD in the future [92, 93].

Conclusion

The experience of diagnosis and management of a CCHD child is stressful and life changing for families. Opportunities for interventions at the healthcare provider and institutional levels are available to enhance healthcare quality. Focusing future prospective, longitudinal research on diverse family and family experiences of CCHD could inform best-practice healthcare delivery and facilitate coping for all.