“She was finally mine”: the moral experience of families in the context of trisomy 13 and 18– a scoping review with thematic analysis

Abstract

Introduction

The value of a short life characterized by disability has been hotly debated in the literature on fetal and neonatal outcomes.

Methods

We conducted a scoping review to summarize the available empirical literature on the experiences of families in the context of trisomy 13 and 18 (T13/18) with subsequent thematic analysis of the 17 included articles.

Findings

Themes constructed include (1) Pride as Resistance, (2) Negotiating Normalcy and (3) The Significance of Time.

Interpretation

Our thematic analysis was guided by the moral experience framework conceived by Hunt and Carnevale (2011) in association with the VOICE (Views On Interdisciplinary Childhood Ethics) collaborative research group.

Relevance

This article will be of interest and value to healthcare professionals and bioethicists who support families navigating the medically and ethically complex landscape of T13/18.

Background

This paper adds to knowledge on the complexities of contemporary neonatal ethics discourse through a review and analysis of empirical literature concerning families’ moral experiences in the context of Trisomy 13 and 18 (T13/18). The value of a short life characterized by severe disability has been hotly debated in the literature on fetal and neonatal outcomes. Furthermore, in neonatal care, where decisions are made on behalf of a child, a challenge arises when we consider whose knowledge and values are considered authoritative in establishing goals of care and interventions in the best interest of a medically fragile infant. In some neonatal conditions, treatment options and anticipated outcomes are reasonably well known with a strong evidence basis in the medical literature. On the contrary, other conditions feature prognostic uncertainty that can make determining goals of care and appropriate medical intervention more uncertain and complex. Medical ethicist and physician John Lantos describes this as a distinct zone in neonatal ethics, which he refers to as the “stable grey zone” [1]. He describes three factors that would influence a condition and its associated treatment decision(s) to remain in this state of ambiguity: (a) if survival rates associated with a condition are critically low, (b) if survival rates are high but associated with severe neurocognitive deficiencies, and (c) if the treatment is long, complex, painful, and/or expensive [1]. In cases where the general public, the medical community and/or a patient group (or their substitute decision-makers) are divided on their confidence in either of these three factors, the condition is likely to remain in a state of persistent ethical ambiguity. Lantos offers trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) as salient examples of conditions that exist in a state of persistent ethical ambiguity [1].

Ethical analysis in a state of persistent ethical ambiguity requires different evidence bases to evaluate how a divide in the perception of a condition has grown and persists between a broader public consensus, medical convention, and the experiences of a patient group.¹ Our literature review is concerned with the evidence base of the latter– exploring the moral experiences of families² in the context of T13/18. We do not contend understanding the moral experiences of families will bring the condition and its various treatment decisions out of a state of persistent ethical ambiguity. Rather, such understandings have the potential to illuminate the ‘invasiveness’ of this state. By invasiveness, we refer to how ethical ambiguity may coexist, influence, or be a barrier to decision-makers’ ability to realize the values they deem as critically important to making medical decisions. To our knowledge, no synthesis of the health-related literature on families’ experiences in the context of T13/18 has been performed to date. Our scoping review and subsequent thematic analysis seek: (a) to synthesize and analyze existing literature in terms of nature, features, volume, and (b) identify gaps in the existing pool of research.

Trisomy 13 and 18

T13 and T18 belong to a class of chromosomal genetic disorders caused by an extra copy of the associated chromosome. After trisomy 21 (Down syndrome), these conditions are the second and third most commonly diagnosed autosomal trisomies in liveborn infants [2]. While T13 and T18 are distinct conditions, we have elected to include both in this review due to their similarities. This decision aligns with the broader health-related literature in the T13/18 area, where qualitative [3] and quantitative studies [4] often discuss the conditions in tandem.

A decade ago, T13/18 were largely considered conditions incompatible with life [5]. Research published within the last decade has demonstrated that 5–10% of infants with these conditions survive beyond their first year of life [2]. Children born with T13/18 have a combination of serious congenital disabilities. T13/18 are frequently (up to 80%) associated with multiple anomalies, including congenital heart defects, such as atrial or ventricular septal defect, patent ductus arteriosus, atrioventricular septal defect, tetralogy of Fallot, and intellectual disability [4]. Shifting perceptions of futility in cases of T13/18 have begun to change healthcare providers’ unwillingness to recommend life-prolonging measures, precipitating a recent upward trend in healthcare utilization among parents whose children have T13/18. A retrospective cohort study conducted in 2016 in Missouri found that between 1990 and 2014, major procedures on T13 patients increased from period 1 (1990–1997) to period 3 (2006–2013) from 0.11 to 0.78 procedures per patient [6]. For T18, the increase between the periods was from 0.14 to 1.33 procedures per patient [6]. The marked increases in these study results correspond with those reported in studies using national administrative data sets conducted outside of North America, including a 2015 study in Japan that measured medical procedures and outcomes of Japanese patients with T13/T18 [7]. These studies suggest changing perceptions on the futile nature of T13/18 may have significantly contributed to a substantial rise in the provision of major life-sustaining procedures on infants with T13/18.

Moral experience

Our review adopts a moral experience framework developed for empirical and theoretical inquiry in bioethics by scholars Matthew Hunt and Franco Carnevale [8]. They define moral experience as “[e]ncompassing a person’s sense that values that they deem important are being realized and thwarted in everyday life. This includes a person’s interpretations of a lived encounter, or a set of lived encounters, that fall on spectrums of right-wrong, good-bad, just-unjust” ([8] p. 659). The framework focuses on five key elements: (a) sense and interpretation– specifying moral experience encompasses the ‘sense’ and ‘interpretation’ of particular encounters by individuals and the meanings they ascribe to particular experiences; (b) the person– specifying a focus on subjective experience with regard for the collective histories or contexts that constrain or shape an individual’s interpretation; (c) values thwarted or realized in everyday life– an individual’s sense that meaningful values are being enacted or impeded, highlighting the process of enacting or impeding values can occur simultaneously and in tension with one another; (d) lived encounter or a set of lived encounters– the sense that values are being realized or thwarted may or may not be linked to an identifiable person, object or circumstance and may include background orientations like a particular outlook on life; (e) spectrums of right-wrong, good-bad, just-unjust– describing spectrums, as opposed to categories, seeks to make visible variations and degrees of moral experience that can play out in both seemingly mundane and high pressure settings [8]. The framework was utilized in the development of the scope of our literature review and in the subsequent thematic analysis we pursued.

Methods

Identifying the research question and scope of the review

We used Arksey and O’Malley’s [9] methodological framework for conducting scoping reviews and heeded the enhanced recommendations of scholars Heather Colquhoun [10] and Danielle Levac [11]. We employed the MIP model for empirical literature reviews in bioethics to establish the scope of the review [12]. The question we produced to guide our review was, “What is known in the literature about the moral experience of families navigating decision-making in the context of trisomy 13 or 18?” Adopting a contextual framing in the review question is congruent with the method of analysis, a moral experience framework [8], which we subsequently employed in our thematic analysis, interpreting the idea of ‘context’ to include a wide range of phenomena, moral spectrums, and diverse circumstances.

Identifying relevant studies

The literature we reviewed was retrieved through searches of the MEDLINE, EMBASE, CINHAL, and SCOPUS databases using a combination of search terms and keywords related to methodology (e.g., qualitative, interview, thematic), experiences (e.g., ethics, lived experience, decision-making), and participants (e.g., parents, pregnancy, trisomy 13, trisomy 18). We chose these databases to cover the broad range of disciplines scholars interested in the topic have published in (e.g., nursing, medicine, genetics, bioethics, social sciences). A general list of search terms was created and tested in each database. We further reviewed the reference list of included articles and conducted a grey literature review to enhance the rigour of the process and ensure no relevant articles were missed. We consulted with a research librarian at Western University, Meagan Stanley, throughout the design and execution of our search strategy. See Table 1 for terms used in the search strategy.

Table 1 Database Search Terms

Study selection

Our study selection process began with developing inclusion and exclusion criteria (see Table 2). Our database search garnered 297 articles. We identified and removed 83 duplicates. The primary author performed the title and abstract screening of 214 articles, excluding 182 articles. A secondary reviewer from the authorship team (MS) worked with the primary author to review the remaining 32 full-text articles, excluding 19 articles. At this point, the two authors also searched grey literature and screened the reference lists of preliminarily included articles. After adding 4 articles from the grey literature search, this led to a total of 17 articles being selected for our review (see PRISMA diagram in Fig. 1).

Table 2 Inclusion and Exclusion Criteria

Fig. 1

PRISMA Flow Diagram

Charting the data

We extracted descriptive data (See Table 3) from articles, including the geographical study location, disciplinary location of the primary author (if more than two authors were listed the first was considered primary), research question/topic, type(s) of qualitative methods used, data analysis of the qualitative component, makeup of participants, and the key findings of the qualitative component.

Table 3 Descriptive Data of Included Articles

Descriptive features of included articles

The majority of studies we included in the review were conducted in the United States [13], with the remainder having diverse disciplinary locations, including Japan [1], England/Scotland [1], Canada [1] and Germany [1]. The disciplinary backgrounds of the primary authors were also diverse, including Medicine, Bioethics, Nursing, Genetics, Psychology, Law, and Health Humanities. All articles were published in the last 13 years, with the oldest published in 2008 [24] and the most recent in 2021 [15, 19]. Studies examined different experiences in the context of T13/18, including screening in the prenatal phase, experiences during the pregnancy after diagnosis, and experiences of families after birth. Interviews and focus groups were the most popular data collection method (58%), followed by surveys with open-ended questions (41%). A significant number of studies that reported a method of analysis for the qualitative component of their study used a form of thematic analysis (58%) or content analysis (23%). Other methods of qualitative analysis included interpretive description and grounded theory. A significant number of studies (41%) did not report a specific method for the analysis of their qualitative component, though most did organize the findings into ‘themes’. Four articles [5, 15,16,17] are associated with a larger study [16]. Despite similarities in data reported, we included all four articles as they produced distinct analyses. No studies included in the review used the term moral experience or applied it as a framework [8].

Data analysis

We employed reflexive thematic analysis proposed by scholars Braun and Clarke [28] to analyze themes across articles in our review. The first step involved close reading and note-taking to begin to think about codes. We moved between articles to begin to appreciate patterns among them. We coded textual excerpts of quotes from participants in the studies reviewed and interpretations from the authors of the studies. Quirkos [29], a qualitative data management software, was used to organize the data, and all coding was performed manually. A deductive coding scheme (See Table 4) was then used as the analytic interests in the review were informed by Hunt and Carnevale’s moral experience framework [8]. As none of the studies explicitly used childhood ethics language, we focused on producing codes that would seek to broadly interpret the features of the moral experience of families as expressed across the studies included in this review. Several codes (e.g., choices, moral beliefs, life, family) are purposively broad. These codes were further developed into sub-themes and often a code was applied to multiple sub-themes. Our analysis resulted in three distinct themes: (a) Pride as Resistance, (b) Negotiating Normalcy, and (c) The Significance of Time. Themes are described below, with accompanying excerpts from the studies included in this review. See Fig. 2 for a thematic map reflecting the relationship between codes, sub-themes, and central themes.

Table 4 Coding Scheme

Fig. 2

Thematic Map

Findings

Pride as resistance

Across multiple studies, parents of infants with T13/18 who chose to continue their pregnancy to term reported facing significant opposition from healthcare professionals who questioned whether their choices were in the best interest of their child or were primarily concerned with self-interests. Several scholars suggested it was common for parents who chose to continue their pregnancy after a T13/18 diagnosis to face significant, strong opposition from healthcare professionals.

“The doctor blurted out she was going to die before everyone left the room, even my 4-year-old son.” (study participant, Janvier et al., [15], p. 282).

“When I heard a nurse say to another one “She must be so uncaring and unloving making that baby suffer!” A nurse told us “We want what is in her best interests. Why would you want that done to your child?” (study participant, Janvier et al., [17], p. 266).

This sentiment was expressed by several study participants, like those above, across articles in our review. Further, researchers in multiple studies underscored the prominence of this sentiment.

“Following the diagnosis, parents report being told by a HCP that their baby would likely die before or at the time of birth (94%), that their baby would not live for more than a few months (88%), that the condition of their baby was lethal or incompatible with life (93%), that their child would be a vegetable (55%), that their baby would destroy their family or their marriage (28%), and that if their baby survived, he would live a meaningless life (55%) or a life of suffering (68%).” (Guon et al., [5], p. 312).

“Most parents had been told their child was “incompatible with life” and would live a meaningless life of suffering (Guon et al., [5]) but perhaps experienced the opposite; their baby grew, smiled, and progressed and the family coped and was enriched. A quarter of parents regretted not doing enough interventions.” (Janvier et al., [15], p. 285).

Although many parents reported finding this opposition distressing, multiple studies in our review suggested it may have contributed to the development of resiliency that became significant to their ability to navigate the psychosocial challenges of their clinical and personal environments. Both study participants in the description of their experiences, and researchers in the presentation of findings, expressed this resistance through fighting metaphors.

“Several families described having to fight on behalf of their fetus.” (Walker et al., [24], p. 17).

“I think that healthcare providers are so negative about the baby they force families on the defensive […] If we feel providers want our babies dead, we will fight for them. This is what parents do.” (study participant, Janvier et al., [17], p. 267).

“My understanding of prognosis is that the odds are stacked against my daughter. She has got a lot of uphill battles to fight.” (study participant, Weaver et al., [27], p. 2).

In comparison, other studies presented the experiences of parents who expressed that developing and maintaining this resiliency within clinician environments often led to severe exhaustion and frustration.

“We did not know what to do. Then I got pressure to terminate my pregnancy. They told me she would ruin my life and there was no hope. This was too much. My baby was worth it and I would get what she needed. We went somewhere else.” (study participant, Janvier et al., [17], p. 267).

“The narrative impulse (of participants) seemed to be a response to their feelings of powerlessness as they struggled to grasp their child’s diagnosis. They described feeling at odds with the medical staff.” (Arthur and Gupta, [3], p. 235).

“We were unsure of what to do about surgery, this was our child’s life […] they (medical team) were sure it would be better if he died quickly. It seemed very simple to them. When they told us there was nothing they could do, and all the things he would not get, we decided this was enough and that we would get something, everything for our baby.” (study participant, Janvier et al., [17], p. 267).

In multiple studies, researchers presented the experience of parents who advocated for their child’s agency, personhood, and unique attributes to be recognized by individuals around them.

“She had a peaceful character, a sense of humor, a toughness that always made her try hard and never give up, and friendliness.” (study participant, Kosho et al., [18], p. 1538).

“She loves to ride her horse with her special saddle and support, pet her cats, and pet her dogs. She loves to play in the water or float and splash. She is the light of our lives. She is almost always happy and she’s full of sass. She is the strongest person I know and I’m so proud to be her mom.” (study participant, Weaver et al., [26], p. 234).

“All of the parents interviewed described unique and distinctive qualities for their child. They often characterized their child as energetic and opinionated, using words like “bossy” and “magnetic” (#10), “feisty,” and “proud of herself” (#17), “spunky” and “sassy” (#28), and a “princess warrior” that ran her household (#10).” (Arthur and Gupta, [3], p. 228).

“Some parents saw their child as an autonomous entity with his or her own agency and plan. One family felt encouraged by their doctor telling them that their daughter would “tell her own story.” (Arthur & Gupta, [3], p. 228).

Studies also reported the parents they interviewed found value in like-minded communities who had lived experience in advocating for their infant with T13/18 and navigating the medical system. Storytelling within these communities emerged as a meaningful interest for families.

“All of the families expressed a particular interest in supporting other families who had children with T 13/18. One mother described her daughter as a 1-year-old with a desire to “impact so many people,” a “purpose” that her mother perceived her daughter passing to her in her final hours: “Mom, I am tired, you can carry the torch now.” (Arthur & Gupta, [3], p. 233).

“If there is something that we can say from our experience that will help support somebody else, that’s really important because we want her life to have purpose and we want her life to have meaning. And anything that we can do to make sure that stays forever I’ll do (#12).” (study participant, Arthur & Gupta, [3], p. 233).

Negotiating normalcy

A subset of articles in this review focused on family screening and pregnancy experiences in the context of T13/18. Several researchers found that while the screening process for T13/18 commonly involves noninvasive medical testing (did not require surgical intervention), this testing had intrusive implications for parents’ lives in another way, as highly socially invasive.

“One prenatal diagnostician made a powerful claim concerning the social implications of NIPT when she said that “I know it calls itself a noninvasive test, but basically, it is a highly invasive test. For me, this is an invasive test, though not with a needle, yet it is highly intrusive.” In line with this claim, we argue that despite its clinical non-invasiveness, NIPT affects decision-making and is in this sense socially invasive. It can introduce disturbances into, and interferences with, social relationships.” (Reinsch et al., [22], p. 210).

Researchers found that some parents interviewed pursued screening for the perceived feelings of reassurance they believed a negative test could offer the rest of their pregnancy experience.

“NIPT, in contrast was frequently described as reassuring […] for the majority of women NIPT enabled them to have reassurance that the baby was not affected by one of the three main trisomies and reduced anxiety for the remainder of the pregnancy.” (Lewis et al., [20], 877).

Conversely, other researchers found some parents expressed the anticipated distress and burden to their psychological health, in the event of a positive test, outweighed possible benefits the knowledge of the test might have offered them.

“In our study, we found that some women chose the strategy of non-testing in order to avoid the psychological distress and burden they expected to be caused by NIPT. For these women, the experience of an unburdened pregnancy outweighed the knowledge that the test provides.” (Reinsch et al., [22], p. 211).

One researcher [22] described how prenatal testing influenced how parents morally positioned themselves toward their fetus and other people in their lives with disabilities.

“not only [did she] position herself towards the fetus that she was carrying at the time of the interview. Rather considerations of an abortion established an important link to her firstborn. The mere potentiality of an abortion challenged the relationship with this first child who had down syndrome and, thus the notion of unconditional love towards him.” (Reinsch et al., [22], p. 209).

“I think, for me, in particular, my husband has multiple sclerosis and I’ve got two children already and I’m a bit older and so it was very important for me… I was quite clear about the fact that I couldn’t take on caring for something knowing I might have to care for my husband in the future.” (study participant, Lewis et al., [20], p. 877).

Several researchers found the parents they spoke with profoundly mourned the loss of meaningful social experiences or personal feelings they had an expectation they would experience during pregnancy or as parents before they received a T13/18 diagnosis.

“These feelings contrast poignantly with a normal pregnancy experience, where social acknowledgment of the expected baby, even from strangers, adds to the joy of the pregnancy. The deep divide between the parents’ personal experience and the social experience was a source of pain beyond their feelings of grief and loss.” (Cote-Arsenault & Denney-Koelsch., [14], p. 1307).

“The ultrasound technician had a poker face like you would not believe. I had no clue that anything was wrong. I think that I would have preferred for her to have found a doctor and talked to me right there because we learned the sex of our baby and I had practically redecorated the nursery the night I found out, and we had called the whole family.” (study participant, Walker et al., [24], p. 15).

Significance of time

The studies reviewed discuss time in diverse and meaningful ways. In this theme, we express our understanding that time was discussed as both indicative of states of being and a thing to be hoped for and cherished. The first way we understood time to be meaningful to the moral experiences of families within the context of T13/18 was the way in which many researchers, explicitly through participant testimony, described the isolation and disempowerment parents felt navigating the medical system.

“We were in limbo.” (study participant, Cote-Arsenault & Denney-Koelsch., [14], p. 1305).

“Parents heard bad news over time, in disconnected, uncomfortable interactions from different providers. Diagnoses often took many weeks, leaving the mother and father anxious and worried, but still hoping for the best.” (Cote-Arsenault & Denney-Koelsch., [14], p. 1306).

Findings and participant testimony presented by researchers also reflected discontinuity in care was a significant factor leading families to experience distress, confusion, frustration, and uncertainty over the future choices they would have to make on behalf of their infant.

“Discontinuity of care was a common complaint among our study population. Families were often referred to a large medical centre or a high-risk obstetric clinic for further care.” (Walker et al., [24], p. 14).

“I lost contact with my regular health care provider, so we got shuttled into a little subsystem. It’s like ‘something’s wrong, so you don’t go to us anymore, you go to these new people.’ It would’ve been nice if my doctor would’ve called and said ‘you know I understand that there’s a problem, let me know if there’s anything I can help you with’.” (study participant, Walker et al., [24], p.14).

Clinical spaces were not the only setting where researchers reported parents experienced feelings of powerlessness. Some parents also had a similar experience in online support groups.

““A mother who chose hospice for her child described online resources as often being characterized by judgment from parents with surviving children towards those who didn’t choose aggressive interventions (followed by an excerpt from interview transcript)– “What you are going to see is all the parents that still have living trisomy kids are the ones that are out there saying, do this, do this, do this. It’s the rest of us, the 90%... we basically keep our mouth shut about it because that’s not what our story was.”” (Arthur and Gupta, [3], p. 233).

“I looked on the Internet and found some support groups. They get people posting who have a spiritual view or whose babies live a long time. There is the tendency to think that that is the typical experience, which is a shortcoming of leaving the patient to find information on their own.” (study participant, Walker et al., [24], p. 16).

Parents were also highly future-oriented, some studies reported, keenly invested in thinking about how their choices in pregnancy would impact their ability to fulfill the interests of themselves, and their family in the future.

“I believe continuing my pregnancy was beneficial to my long-term emotional health because it allowed a more natural grieving process (vs. termination).” (study participant, Guon et al., [5], p. 311).

“Participants also reflected on their ‘future lives’, for example, one participant with a high-risk reflected on what the long-term future of parenting a child affected by down syndrome [the study looked at a variety of trisomies] would look like and the implications for her own children” (Lewis et al., [20], p. 876).

Time was not simply described by studies in terms of a state of being, it was also something parents hoped for deeply– time with their child.

“My biggest hope was that he would not suffer in any way. Naturally I hoped that he would be with us for a long time and have a good life. I wanted to give him a chance.” (study participant, Janvier et al., [15], p. 281).

Researchers across studies found a hope for time was often accompanied by some common desires of parents including: to be together as a family, to have their infant be born alive, and to bring them to their home.

“I hoped that we would be able to bring her home and raise her and care for her in our family.” (study participant, Janvier et al., [15], p. 281).

“I would like to be able to bring her home and have a family experience having her home. I am hoping to let her have quality time with us as a family once we are able to get her to that point. I hope one day she will be well enough to go home with us to be a family for as long as she is able.” (study participant, Weaver et al., [27], p. 2).

In cases where time with the fetus or newborn was likely to be critically short, multiple studies found parents were comforted by healthcare professionals who encouraged parents to reconsider the time they deemed as part of their child’s life.

“They suggested that we treat Tessa’s time in the womb as part of her life. It made her life more meaningful to our younger children and us.” (study participant, Janvier et al., [17], p. 266).

Some studies suggested parents experienced significant distress in cases where healthcare professionals did not encourage this outlook on life, time, and togetherness. This quote stood out as quite a visceral emotional description of a mother feeling able to bond with her child, and craft memories, only after the child had died, and no one cared what she did.

“One mother struggled to recall a fond memory of the 14 weeks she spent with her child in the ‘sterile’ NICU because, “I didn’t feel like she was mine […] all of my pictures I’m in a hospital gown and no wedding ring… that’s not me.” After her daughter passed away, she finally had a chance to craft the memories that she wanted, “I wanted my picture taken because she wasn’t attached to anything […] and then I wouldn’t put her down for some hours […] because she was finally mine […] because she wasn’t connected and nobody cared what I did.” (study participant, Arthur and Gupta, [3], p. 232).

Discussion

The persistence of the ethically ambiguous state of T13/18 in medical, social, and cultural communities, as demonstrated by our analysis of the literature we reviewed, has a profound influence on many families’ interpretation and sense of how their values may be both thwarted and actualized in their lived experiences of T13/18. In this discussion, we present a constructive reflection on how our inquiry into the moral experience of families captured in the current body of literature on their lived experiences contributes to a strengthened understanding of how we might view and navigate the invasiveness of these conditional states of persistent ethical ambiguity.

An inquiry into the agency of a particular group, as our theoretical lens understands it, involves the discernment of phenomena in terms of their broader meaningfulness [30]. From a moral experience lens, this process involves seeking to understand how the experience of this phenomenon (which may be conceived of events, interactions, interpretations, situations, circumstances) matters to the agent, which is in part shaped by the systems of meaning the agent is socially embedded within [8]. Our review collected a small but rich body of literature which explored the lived experiences of families in the context of T13/18. Our analysis demonstrated how (a) pride as resistance, (b) negotiating normalcy, and (c) the significance of time can be regarded as meaningful concepts to further our understanding of how agency is perceived and exercised by families experiencing T13/18 as expressed by the body of literature we reviewed.

Our theme, ‘pride as resistance,’ acknowledged the myriad of different ways that experiences and normative evaluation interrelate in the context of T13/18 and suggests some families who chose to continue their pregnancy found deep meaning in resisting the historically dominant discourse in medicine that T13/18 are conditions incompatible with life. In our analysis, we discussed the agentic nature of this resistance, reflected in the fighting metaphors both authors and their participants used [3]. Resistance, especially of a nature that families in the literature expressed, presupposes the existence of a strong ‘force’ one interprets as working against them. This lens allows us to unpack why families who wish to continue their pregnancy might feel the need to be zealous in their advocacy publicly and in online support forums for other parents. One could also argue studies that pointed out the use of fighting metaphors are reflective of families’ cultural beliefs about engaging in parenthood. This resistance may support the ability of parents to express how meaningful it is for their child’s agency, personhood, unique attributes, and life story to be recognized by individuals and communities they are or seek to be embedded within. Equally, taking on that advocacy role can be exhausting, isolating, and increase perceptions of injustice. There is a distinct richness to the moral nature of the experiences captured in the literature we reviewed, which describes families experiencing many emotions and expressions of identity like pride, grief, surprise, play, anger, resistance, sass, acceptance, spunk, magnetism, peace, and toughness, in complex and intertwined ways.

Our theme, ‘negotiating normalcy,’ discussed families’ experiences of desiring and, in some cases, sensing they were denied access to culturally valuable ‘goods’ within their social communities— expressed in terms of beliefs and values— like the loss of a ‘normal’ pregnancy experience. Families in the studies we reviewed experienced the ethical ambiguity associated with T13/18 as invasive in their social interactions [3, 15, 24]. This invasiveness challenged their access to social acknowledgments that mattered to their sense of social belonging and to the formation of their identity as parents ‘in becoming’. We also discuss critical ideas in the literature we reviewed about the underappreciation of how morally and existentially challenging prenatal screening can be for families. Parents after a T13/18 diagnosis may be vulnerable to pressures regarding what identity they must take up to be a ‘good parent’ considering the new knowledge they have acquired through the diagnosis. In the current available research this is mainly explored through studies that looked at parents’ involvement in social networks [16], or studies that discuss how parents navigated the interpretation of trustworthy informational sources [24]. As research about ‘good parent beliefs’ evolves and grows in the pediatric ethics space [31, 32] this could be a powerful avenue into future research on the moral experiences of families in the T13/18 context. In the context of what we know about persistent ethical states of ambiguity, we might consider the lack of acknowledgment of how challenging the screening process can be for families, which could contribute to the moral distress they face in the decision-making process that follows their screening.

Our theme, the ‘significance of time,’ analyzed how time, both temporally and spatially, was morally significant to how parents/families conceptualized their agency and ability to make normative evaluations about decisions on behalf of their pregnancy/child. Looking at both the temporal and spatial expression of time offered unique ways to think about how parents assess information and express their hopes and desires for their child in the context of T13/18. Several philosophical scholarly contributions on the ethical challenges surrounding the provision of life-sustaining measures in cases of T13/18 motivate a central tension in these cases concerns how a family and clinical team conceive of choices in the best interest of an infant considering their predicted present and future quality of life. In healthcare, quality and quantity of life can often be positioned as dichotomous concepts in goals of care discussions [33]. Across multiple studies included in this review [5, 17, 27], families expressed the prominence of this dichotomy (that their choices in effect would either attend to quality or quantity of life concerns, not both at the same time) in medical cultures constrained their ability to feel heard and understood by clinicians in establishing goals of care for their child. Families often felt their motivations to push for life-sustaining treatment were mischaracterized by clinicians as efforts to simply prolong their child’s life or a failure to appreciate the severity of their infant’s condition.

Several studies we reviewed [15, 18] provided rich insight that a crucial part of families’ moral experience was a deep desire for engagement and connection with their infant, to make memories and bonds outside of clinical environments many parents felt alienated within. This might necessitate more attention in the clinical setting be given to supporting a family to consider how they integrate their infant with T13/18 into the quality of being a member of their family in a way that feels real and meaningful considering their unique moral, cultural and/or spiritual context. The current body of research positions quality of life, quantity of life, and the value of ‘togetherness’ or the ‘adoption’ of the child into the existing family of parents as significant values that are often held by parents simultaneously. In exploring the significance of these values to the moral experience of families, one might consider how a parent’s motivation to pursue ‘togetherness’ as an interest could influence prioritization of this value ahead of other values perceived to be more constitutive to the best interest of the child. However, the social and cultural complexities of familial interests demonstrated within this body of literature illustrate separating the interests of a critically ill infant from those of their parents is ethically and practically challenging in a condition like T13/18. This insight is also reflective of growing ethical discourse [34,35,36] in associated bodies of literature on the utility of the best interest of the child standard in establishing goals of care for children across pediatric medical specialties.

Of critical importance to this discussion is the recognition that societal, cultural, religious, political, and legal factors influence the way different families consider the morality of their healthcare decisions and sometimes the authority and choices they can make on behalf of their child. In the context of this literature review, as the majority of articles included reported on studies conducted in America, a North American context bears relevance to the experiences of those research participants, the authors who reported on them, and our secondary analysis of that reporting. One study included in our review, which was conducted in Japan [18], points out in their clinical experience it appeared more natural for Japanese healthcare professionals in treating children with severe disabilities to consider their existence to be precious and valuable. Moral matters are rooted in a person’s moral ontology, that is, the underlying commonly implicit beliefs held by a person or a group of persons. The moral experience lens we adopted in this review recognizes these forces as ‘horizons of significance’ [8]. If we consider how families as moral agents stand against a background of ‘horizons of significance,’ we can start to distinguish how their agency is constructed by the context that they reside within and the sociohistorical-based moral order within which the meaning of their identity and experiences of having a pregnancy/child with a diagnosis of T13/18 is rooted [8]. The literature we analyzed in this review demonstrates having a pregnancy/child with a T13/18 diagnosis requires families to be in a complex process of continual appraisal of how their concerns stand in relation to their local moral context; this moral experience is compounded by the ethically ambiguous nature of their local moral context in relation to the conditions.

Empirical bioethical inquiry centring on how an individual or group exercises, or ‘ought’ to exercise, agency, can often presuppose a normative ethical lens seeking to understand how ethical principles or standards stand in relation to culturally accepted moral values we deem relevant to decision-making [8]. In this way, these lines of inquiry value the perceived benefit of exploring subjective and collective endorsements of moral systems constructed of coherent, systematic, and reasonable principles, rules, ideals, and values to produce ethically justified decision-making [8]. We would suggest conditions that find themselves in persistent states of ethical ambiguity (like T13/18) are uniquely suited to challenge the value of this presupposition. As such, researchers should consider the utility of alternative approaches to studying the contours of agency and, consequently, the nature of decision-making in these states.

In our review, we used a moral experience lens to analyze literature that explored the lived experience of families navigating a condition (T13/18) in a state of persistent ethical ambiguity. This approach allowed us to shift our focus from considering normative questions like, “what does the literature say we should do to support parents to make ethical decisions in the context of T13/18?” to “what does the literature say about how parents’ interpretation of their experiences in the context of T13/18 inform what matters or is at stake for them in their decisions?” and “how are parents’/families’ experience of evaluating morality in their decisions shaped by the systems of meaning they are embedded in?– furthermore, do families have the power to resist or transform those systems of meaning?” Normative questions ask what we should or ought to do. In states of persistent ethical ambiguity, while, of course, actions still need to be taken, just by the nature of these states themselves, we can presuppose that the “should” is highly resistant to an objective answer. We found in our review of the literature that a focus on moral experience and the systems of meaning that influence those subjective experiences was a rich lens to contribute applied and theoretical insight into why T13/18 remains in a state of persistent ethical ambiguity, and how families live and make decisions within that state.

Strengths and limitations

It should be acknowledged this review only considered the inclusion of articles written or available in the English language. Regional legal regulations, cultural values, and healthcare policies in different regions bear significant context to our analysis. As the majority of articles in this review were conducted in the United States, it should be recognized our analysis may be more relevant to healthcare systems and bioethics traditions that bear similarities to a North American context. This review excluded normative literature on the subject, despite its valuable contributions to the ethical discourses we explore in our review. We made this decision to forefront empirical work which examined the experiences of families in the context of trisomy 13/18. Our review and analysis does not contend to speak to, or for, the moral experiences of all families in the context of T13/18. Consistent with our theoretical outlook our inquiry acknowledges this would be an impossible feat considering the subjective and culturally embedded nature of moral experience.

Conclusion

This review suggests there is great value in applying a moral experience lens to research the experiences of families’ in the context of T13/18. Decision-making in the context of T13/18 engages with questions of the morality of prolonging life, suffering and the effects of illness and disability on a family. Our review demonstrates a myriad of other ethically relevant concerns deserve consideration in these discussions, including notions of a ‘normal’ pregnancy and child, the psychological price of continued resistance against a medical system one perceives themselves to be at odds with, how pride and resistance interrelate, how the decision-makers in families forecast their future needs, and how both quality and quantity of life can be complementary desires, among several others. The richness of these ethically relevant concerns demonstrates more research into the experience of families’ in the context of T13/18 could produce valuable insight into supportive actions to alleviate some of the moral distress these families, and their healthcare providers face.