Table 3 Descriptive Data of Included Articles

Article Reference #1

Agatisa P.K., et al., (2015). A first look at women’s perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes [13].

Descriptive Details

Key findings of Qualitative Component

1) Familiarity with conditions being assessed by non-invasive prenatal testing (NIPT) affected patients’ perceptions of the value of testing.

2) Participants in this study were well versed in the use of prenatal testing to assess the presence of Trisomies 21, 18, and 13, the utility of NIPT as a screening test, and the need for diagnostic testing to confirm the presence or absence of a condition.

3) Patients supported the ability to opt-in or opt-out of testing for certain conditions based on the value they assign to acquiring such information.

4) Patients trusted their obstetric clinicians and relied on them to provide the information required to make informed decisions about NIPT.

5) Patients recognized that clinicians have limited time and resources for patient education and counselling in addition to their responsibility as patients to be informed healthcare consumers.

Article Reference #2

Arthur, J., Gupta, D. (2017). “You Can Carry the Torch Now:” A Qualitative Analysis of Parents’ Experiences Caring for a Child with Trisomy 13 or 18 [3].

Descriptive Details

Key findings of Qualitative Component

1) Parents saw their children as significant, having special importance within their communities and faith traditions. As a result, they resisted attempts to reduce their child to a medical diagnosis.

2) Parents saw their child as having a transformative effect on those around them. However, while the effects were often positive, parents warned that the challenges of their child’s complex disease could also create ruptures in relationships.

3) Parents felt that engaging in the medical system brought feelings of powerlessness which alienated them from their child.

4) Parents emerged from these experiences motivated to tell their child’s story, believing that storytelling could be therapeutic for them and helpful for others.

Article Reference #3

Côté-Arsenault, D., & Denney-Koelsch, E. (2011). “My Baby Is a Person”: Parents’ Experiences with Life-Threatening Fetal Diagnosis. Journal of Palliative Medicine [14].

Descriptive Details

Key findings of Qualitative Component

1) Parents grieved the loss of their normal pregnancy, healthy baby, and future.

2) Parents experienced a sudden interruption in the normal process of becoming a parent.

3) Parents held a unanimous desire to honor and legitimize the humanity of their unborn baby.

4) Parents experienced disjointed and distant encounters with multiple providers.

5) Parents described a lack of understanding from family and friends of what they were experiencing.

6) Parents’ sense of social isolation added to their personal sense of loss and loneliness.

Article Reference #4

Guon, J., et al., (2014). Our children are not a diagnosis: The experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18 [5].

Descriptive Details

Key findings of Qualitative Component

1) Parents who received a prenatal diagnosis of T13/18 expressed reasoning related to moral beliefs (personal values and/or religious beliefs), parent centered reasons (desires or perceived benefits of the pregnancy/child) and child centered reasons (love, intrinsic value, uncertain outcome).

2) Parents felt some health care providers did not view children with T13/18 as unique children, though over half reported positive experiences with a “special” provider who provided balanced information and treated them with respect.

3) Parents reported feeling pressure to terminate the pregnancy.

4) Parents described their hopes when they first heard about the diagnosis, the most common being that the child would be born alive and they would have a modest amount of time to spend with their child.

5) The majority of parents whose child died described the overall experience of their child’s life as being positive, irrespective of the length of their lives.

6) The authors offer suggestions to assist healthcare providers to provide optimal prenatal care for parents who continue their pregnancy after a diagnosis of T13/18.

Article Reference #5

Janvier A. et al., (2016). Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18 [15].

Descriptive Details

Key findings of Qualitative Component

1) Parents had common hopes when they received a diagnosis of T13/18- they hoped to meet their child alive, take their child home, be a family and give their child a good life.

2) The recommendations parents had from medical providers were homogeneous; comfort care at birth with the plan of not prolonging life was recommended to all parents

3) The single most important factor independently related to mortality (before going home or before 1 year) even when correcting for all other factors, was the presence of a prenatal diagnosis.

4) The authors found that palliative care was homogeneous (minimal interventions and no interventions to prolong life) for children with a prenatal diagnosis. On the other hand, palliative care after a postnatal diagnosis seemed more individualized to the child’s needs and the family’s decisions.

5) Decisions were influenced by the state of the child and whether they were vigorous or weak with parents in general not wanting to impose undue suffering. Parents of almost half the children discharged on comfort care later decided to consider surgical interventions, because their child exceeded expectations.

Article Reference #6

Janvier, A. et al., (2012). The Experience of Families With Children With Trisomy 13 and 18 in Social Networks [16].

Descriptive Details

Key findings of Qualitative Component

1) Of the parents whose children died the vast majority reported that the overall experience of their child’s life was positive.

2) Just under half of parents whose child lived longer than one year found the financial sacrifices related to their child to be very challenging.

3) Parents reported appreciating healthcare providers who- referred to the child by name (even if unborn), offered to take pictures (in and ex utero), referred to other families or web sites, and described not only those organs that had malformations but also those that did not have malformations.

4) The most common negative comment made by parents was a sense that health care providers did not see their baby as having value, as being unique, as being a baby.

Article Reference #7

Janvier, A. et al., (2020). Building trust and improving communication with parents of children with Trisomy 13 and 18: A mixed-methods study [17].

Descriptive Details

Key findings of Qualitative Component

1) Parents described trust as central to positive and supportive interaction with clinicians.

2) Knowledge functioned as an element of trust– The ability of clinicians to give general as well as personalized information, to be humble and curious and to give balanced information functioned as elements of trust.

3) Caring and valuing the child and the family functioned as an element of trust– parents reported positive clinicians cared about them and made them feel their baby and their family had value, were kind and made them feel like good parents.

4) Support and hope functioned as an element of trust– knowing somebody would be there with them during difficult times/decisions, advocate for their child and provide hope.

5) Parents descriptions of disagreements and conflicts involved vulnerability and uncertainty (lack of knowledge and ambivalence toward decisions), distrust (parents felt that clinicians thought their child was “better off dead,” had no value) and anger or certainty (parents demanded second opinions or active interventions).

6) When difficult interactions were described by parents a significant number felt pressure regarding end-of-life decisions or decisions about medical interventions.

Article Reference #8

Kosho, T. et al., (2013). Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group [18].

Descriptive Details

Key findings of Qualitative Component

1) Parents appeared to be positive about caring for their children and the children seemed to interact with parents and siblings for as long as they lived which resulted in quality time and happiness within the families.

2) The most common issue that the parents found difficult was the physical condition of their children and related medical care (exhaustion from home medical care and anxiety for the future of their children).

Article Reference #9

Lebedoff A.N. & Carey J.C. (2021). Parent-reported histories of adults with trisomy 13 syndrome [19].

Descriptive Details

Key findings of Qualitative Component

1) The authors provide a list of comments from family members on the question of what they would like a family to know who has a new diagnosis of T13 in their infant. These quotes describe a diversity of emotions and sentiments including fear, grief, joy, patience, growth, familial fit, adjustment periods and challenges of living in a rural area. They all had a generally hopeful or positive tone.

Article Reference #10

Lewis C., et al., (2016). A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy [20].

Descriptive Details

Key findings of Qualitative Component

1) The majority of women were aware that NIPT tested for trisomy 13 and 18, in addition to Down syndrome, but interviews highlighted that most participants had no knowledge of these conditions prior to being informed about them either at the booking-in-appointment or when they were offered NIPT. Most women recollected that these conditions were much more severe than Down syndrome.

2) The authors found three dominant factors shaped women’s attitudes toward NIPT a) Women found results were easier to understand and more accurate than traditional screening making NIPT feel reassuring and safe b) Women’s perceptions of whether they felt physically and mentally able to take on the challenges of caring for a disabled child were found to play a significant role in influencing their attitudes towards undergoing NIPT c) Moral or religious views around termination of pregnancy and perceived quality of life of a child with Down syndrome (or T13/18) were frequently cited when women reflected on their attitudes towards NIPT.

3) Most women agreed that the quality of life of a child with T13/18 was so poor that it did justify termination of pregnancy.

Article Reference #11

Park A & Mathews M. (2009). Women’s decisions about maternal serum screening testing: A qualitative study exploring what they learn and the role prenatal care providers play [21].

Descriptive Details

Key findings of Qualitative Component

1) Women in the study relied upon multiple sources of information to learn about MSS including healthcare professionals, prenatal pamphlets, books, the internet, on-line chat rooms, prenatal classes and family and friends. The manner in which women in the study learned about MSS (use of multiple sources, reliance on personal connections) was consistent with the way they learned about other aspects of their pregnancy.

2) Many women felt after speaking to their physician about MSS they needed additional information to make their decisions and identified special topics that were not discussed (how the test is performed, accuracy, emotional preparation).

3) The way physicians presented information about the test influenced women’s attitudes regarding the value of the test.

Article Reference #12

Reinsch, S. et al., (2021). Decision-making about non-invasive prenatal testing: Women’s moral reasoning in the absence of a risk of miscarriage in Germany [22].

Descriptive Details

Key findings of Qualitative Component

1) Women who decided for NIPT, were often motivated by its offer of clarity and reassurance for different aims (e.g., to terminate the pregnancy in case of a positive test result, to confirm everything was fine with their pregnancy or to prepare for the birth of and life with a disabled child).

2) Women who made use of NIPT reported that because of the lack of risk, they did not seriously reflect upon the decision of whether to take NIPT as an additional test.

3) Dilemmas within social relations emerged in the context of NIPT (e.g., problems with differing “risk evaluations” between physicians, women, and their partners and existential troubles that emerge in families that already include people with a disability, particularly when woman contemplated taking a test that might lead to the abortion of a disabled fetus).

Article Reference #13

Snure Beckman, E. et al., (2019). Attitudes Toward Hypothetical Uses of Gene-Editing Technologies in Parents of People with Autosomal Aneuploidies [23].

Descriptive Details

Key findings of Qualitative Component

1) Parents of people with T21 differed from parents of people with T13/T18 in how they envisioned gene editing impacting their child. Most parents of people with T21 reported that their children were minorly impacted by T21-associated health issues, but if their child’s health issues were more significant, it would impact their willingness to use gene editing.

2) Parents desired increased oversight and guidelines as gene-editing technologies become more clinically feasible.

3) Among those who might use gene editing for their children, primary motivations centered around improving quality of life. The exact mechanism by which they desired to improve quality of life varied among participant populations. Parents of people with T18/13 focused on ameliorating life-threatening health issues, while parents of T21 emphasized increasing their children’s communication and cognitive ability in order to increase independence.

4) An overarching concern was that such technologies would eventually eliminate disability from society and that their children bring a unique perspective to the world that does not need to be “fixed.”

Article Reference #14

Walker LV, Miller VJ, & Dalton VK. (2008). The health-care experiences of families given the prenatal diagnosis of trisomy 18 [24].

Descriptive Details

Key findings of Qualitative Component

1) Parents expressed positive patient-provider relationships from their perspective involved the expression of empathy and compassion. They also valued providers who treated the fetus as valuable and the pregnancy like any other.

2) When discussing negative patient-provider relationships parents found discontinuity of care, poor communication, lack of information/education on the screening process, and generally poor delivery of results, to negatively impact their experiences.

3) In recalling their (parents) experience of receiving the result, prognostic information, and options-counselling some parents were sensitive to language used (incompatible with life, no hope) while others appreciated a perceived straightforwardness to the language.

4) Several families described having to ‘fight’ on behalf of their fetus. Families desired autonomy over the decision-making process and many chose not to seek counsel from providers who seemed biased toward certain options. Some families reported that they feared their fetus would receive substandard care from providers not interested in supporting their hopes and preferences for the remainder of the pregnancy and delivery.

Article Reference #15

Wallace, S. E. et al., (2018). Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18 [25].

Descriptive Details

Key findings of Qualitative Component

1) When comparing the communication styles of genetic counsellors and physicians, this study found that parents generally perceived genetic counsellors as better able to convey the necessary information objectively and in an understandable way.

2) Less than half of all respondents felt that genetic counsellors and physicians provided them with all of the information needed to make an informed decision. Very few parents reported being told that there was a possibility of their child living past birth. This piece of information could be crucial for those that are considering termination or continuation.

Article Reference #16

Weaver, et al., (2020). Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery [26].

Descriptive Details

Key findings of Qualitative Component

1) Mothers were told by healthcare providers following their child’s diagnosis to prepare to lose their baby and expressed frustration over the dominance of that narrative in their discussions.

2) Mothers expressed diverse hopes, including– for their child to enhance future options for children with their condition, to be treated like the unique child they are, and to be able to spend quality time with their child.

3) When mothers discussed their understanding of their child’s prognosis they balanced discussing specific medical information with expressions of uncertainty.

4) In discussing the attitudes of providers who did not agree with offering aggressive medical or surgical interventions to infants with trisomy 18 mothers expressed they wished to be treated with compassion, a respect for their hopes and goals for their child, and an acknowledgment of the value in creating environments that encourage listening and openness.

Article Reference #17

Weaver. et al., (2018). Eliciting Narratives to Inform Care for Infants With Trisomy 18 [27].

Descriptive Details

Key findings of Qualitative Component

1) The quality of life, impact of the child’s diagnosis and prognosis, and a family’s function and well-being were subjective and differed from family to family. The children in this study were perceived by their families to have high quality of life and valued life roles.

2) The functional status of the children was noted to be congruent between parent and provider perspectives. Functional status had minimal impact on the parental perception of the child’s quality of life or parental perception of overall family wellness.

3) Parents depicted their hopes for their child in terms of allowing the child to reach his or her unique potential, experiencing joy and happiness, knowing love, inspiring others, having access to medical care in the future, and finding comfort in the family’s spiritual framework.