Introduction/background

The ability to screen for and diagnose fetal genetic conditions during pregnancy has increased rapidly in the past decade (Lo et al. 2010; Lefkowitz et al. 2016; Norton and Rink 2016; Rose et al. 2020). Prenatal diagnosis has moved toward chromosomal microarray and exome sequencing for hundreds of conditions, and prenatal cell-free DNA screening (cfDNA, also called non-invasive prenatal screening, or NIPS) now returns information about a number of potential conditions. Prenatal screening and testing programs are often described as helping families prepare for a child with a genetic condition (Press and Browner 1993; Bryant et al. 2010; Lewis et al. 2013; Allyse et al. 2015; Floyd et al. 2016). However, the promise that prenatal genetic information will aid in this “preparation” depends on a clear understanding of what preparation means across highly variable conditions and their diverse social contexts (Michie 2020). That promise also relies on the availability of resources families need to enact that preparation (Saul and Meredith 2016).

As both the reach and the breadth of prenatal genetic screening and testing have expanded, patient advocacy groups (PAGs) are increasingly called upon to provide information and resources for expectant parents who have received prenatal genetic information (Meredith et al. 2016). These groups vary widely in their scope, focus, and experience. PAGs focused on Down syndrome, for instance, are often local in scope, although many have connections with broader networks. Since Down syndrome is the most common prenatally diagnosed chromosomal condition, Down syndrome groups have longer and broader experience in supporting expectant parents and families than PAGs focused on rarer conditions, which have been added more recently to prenatal screening panels.

While professional guidelines around the provision of prenatal genetic information have recommended connecting families with support organizations and informational resources (Sheets et al. 2011; Gregg et al. 2016), the roles that PAGs play in supporting families, especially during pregnancy, have not been widely studied. Recent disability-informed scholarship on improving the experiences of parents with prenatal genetic screening and testing has recommended that clinical entities communicate and partner with disability advocacy organizations in educating and counseling families who may be making decisions about pregnancy continuation and management. However, clinical providers may perceive these groups as biased or exclusively “pro-life,” perceptions that can hamper communication and partnerships (Edwards and Ferrante 2009). The lack of empirical data on the ways PAGs work with newly diagnosed families, especially during pregnancy, has limited our understanding of the ability and appropriateness of PAGs to appropriately counsel families seeking practical advice for birth and beyond, in addition to those considering termination. As part of a larger study developing a conceptual model of “prenatal preparation” for genetic conditions, we conducted qualitative interviews with representatives from PAGs that support families in the USA. These interviews aimed to elucidate the roles that PAGs fill for expectant parents and families, the timing and nature of the informational resources they provide, and their perspectives on prenatal preparation for a child with a genetic condition.

Methods

Study design and participant recruitment

We interviewed representatives of PAGs supporting a range of genetic conditions. The research team, with expertise in social science and the ethics of genetics and reproduction, developed an interview guide to explore the following: PAG interactions with families who have received prenatal genetic information during or soon after pregnancy; the resources they provide; what it means for parents to prepare for a child with a genetic condition; and perceptions of the needs of families who connect with PAGs for prenatal preparation and how PAGs meet those needs. As these interviews were all conducted prior to the US Supreme Court Dobbs v. Jackson decision regarding abortion, we did not specifically ask interviewees about changes in US abortion regulations. The interview guide was piloted with members of our advisory board with relevant experience and revised for clarity and conciseness based on their feedback. Potential participants were identified by our advisory board, clinician partners, and via snowball sampling. Using information from our contacts, PAG websites, and initial conversations with PAGs, we identified PAG representatives whose work included interaction with parents who had recently received prenatal genetic information. PAGs were contacted for recruitment via email or through website contact forms.

Data collection and analysis

Three researchers (KC, SR, and a third researcher) conducted interviews between May 2020 and March 2022. All participants provided verbal consent to have their anonymized results used for research. Interviews were audio recorded with participant permission and transcribed verbatim. Participants received a $50 gift card via email upon completion of the interview. Interview transcripts were de-identified and qualitatively analyzed using principles derived from grounded theory (Charmaz 2014). The core analytic team (KC, KR, MA, MM, SR) used a systematic review of four (13.3%) transcripts to collaboratively develop an initial codebook that identified primary thematic domains. The codebook was iteratively expanded and revised during the coding process by two authors (KC and KR) and reviewed by the core analytic team; the final codebook was applied to all transcripts using the Dedoose qualitative analysis software package (SocioCultural Research Consultants, LLC 2022). Interviews were evenly divided and independently coded by two researchers (KC and KR). For analytic rigor, six (20%) transcripts were coded by both coders, spaced intermittently throughout the coding process. The two researchers met weekly to review coded content and all differences were resolved by consensus. Below, we present an analysis of codes related to prenatal preparation: “Prenatal Support,” “Decisional Support in Pregnancy,” “Never Fully Prepared,” “Support Limits,” and “Community Engagement.” In accordance with published standards for the reporting of qualitative data, transcript excerpts are presented with minimal editing (O’Brien et al. 2014). To maintain anonymity, PAGs are identified by category rather than specific condition, with the exception of Down syndrome. This study was approved by the Institutional Review Board of University Hospitals Cleveland.

Results

Interview participants

A total of 30 PAG representatives participated in interviews. Participants included 15 representatives from Down syndrome organizations, 12 from organizations supporting genetic conditions other than Down syndrome (identified below as non-Down syndrome), and 3 organizations providing perinatal hospice services (identified below as Hospice). Twenty participants were from national (USA) organizations, nine were from organizations serving a local/regional area within the USA, and one was from a non-US based organization that provides support internationally. Most participants (27) identified as female (3 as male); 28 self-identified as White, 1 as Black, and 1 as Hispanic. Participants self-reported their connection to the PAG or condition: 21 were parents of a person with the condition, 1 was a friend of an individual with the condition, and 8 had no personal connection to the condition prior to working with the PAG.

Prenatal support offered by PAGs

All but one PAG reported providing prenatal support services to parents following a positive cfDNA screen or diagnostic genetic result. The one PAG that reported they did not provide prenatal support noted that the condition in question was most commonly diagnosed in childhood or adolescence, but that they would be happy to speak to parents prenatally if they did receive a prenatal diagnosis. Informational support ranged from medical information about the condition to information about the lived experience of the condition, such as non-medical needs and family quality of life. This information was typically offered by volunteer or paid PAG staff or, in the case of more common genetic conditions such as Down syndrome, via connecting parents with other families who also received a prenatal diagnosis.

We’re there to give the information and just let them know what life is like as a parent, because I think they just get a lot of medical information from the doctor and they don’t get the other side of it like the personal side. (…) I mean, some of them have medical questions, but I would say the majority of the questions are “what’s my life going to be like?” and “is this child going to change my life and in what ways?” And I get a lot of questions about: “Is your child bullied in school? How does it affect the siblings? What is their life like?” Those kinds of things are what they’re really asking us for, because they’ve already gotten the whole medical list. (Down syndrome organization)

PAGs reported attempting to match new parents with member families based on shared characteristics, such as religion, race/ethnicity, language, twin pregnancy, or condition-specific fetal anomaly (e.g., duodenal atresia).

We try to really connect our parents either demographically, if they had a prenatal or at-birth diagnosis, if they’re younger moms versus older moms, if their child has heart conditions, if there’s other similarities. We try to pair up these families accordingly. Otherwise, we also have some requests to support in a different language. (Down syndrome organization)

PAGs that supported families with a terminal or likely-terminal diagnosis, such as perinatal hospice or certain organizations supporting rare disease, described a more intimate approach in order to support families processing the gravity of the diagnosis and offer context-appropriate guidance on choices about pregnancy continuation, termination, and/or perinatal hospice.

[We] work with the parents on birth plans, so that way, everything that we need is mapped out, and giving them more to do some of that anticipatory grief, which in those prenatal cases is doable … in the normal scheme of things, your pregnancy and everything, it’s a joyous time, everyone, the excitement. But then the family’s given that diagnosis, and so you’re dealing with the dual thing, and the questions from people like, “Well, if you were told this, then why don’t you do something like terminate, or why would you even pick to carry to term?” and so helping to really support the family through that process. (Hospice organization)

A big part of what we were doing at that point was helping them, often, accept the reality of the diagnosis and its severity, that it really was that severe. We would do that with talking about general statistics from the population. Yes, some children do make it—are alive at birth. Some children, yes, do live to their first birthday. But then to contextualize that in terms of the overall population. Because of course, newly diagnosed parents wanting that information to be wrong are going to grab onto any glimmer of hope. (non-Down syndrome organization)

Pre- and post-decisional support and ethos on termination

Most PAGs reported offering prenatal support regardless of whether a pregnancy continuation decision had been reached by the parents. Some, however, expressed discomfort with offering “pre-decision” support. In these cases, “pre-decision” parents were sometimes referred to an individual or organization that would be more willing to have that conversation. Others stated that their services were only for those who had decided to continue with the pregnancy post-decision or believed it was unlikely a pre-decision family would reach out to their organization.

I think most people, once they find us, are kind of down the road of, this is their baby and this is their pregnancy, and this is how they’re carrying on. (non-Down syndrome organization)

We offer a prenatal group every month or every other month, depending on how many families we are supporting at that point in time. And the prenatal group is for families in the last trimester of their pregnancy. So these are families, we know they’re moving forward with the pregnancy. And although there’s still a lot of anxieties and fears, they’re getting ready to welcome their child. (Down syndrome organization)

Several PAGs stressed that they strove to maintain neutrality regarding pregnancy termination and saw their role primarily as a conduit of accurate information about the condition. In some cases, certain PAG staff or volunteers were selected to speak with “pre-decision” families due to their balanced approach or because they did not have an affected child.

It’s really important for us that they have all of the information that they need. Again, we’re very pro-information and don’t take a side either way. So, we want to make sure that they have all the accurate information that they need going into making that decision. (Down syndrome organization)

One mom in particular that just is really good with that—I’m like, “You need to be a counselor or something.” She’s just really unbiased, she makes everyone feel welcome, and no question is off-limits with her. But her and [staff member] are our two go-tos for that. (Down syndrome organization)

A few participants, however, indicated that they personally held a “pro-life” position and expressed moral discomfort with termination of an affected fetus. In some cases, participants attributed this position to having the condition themselves or being the parent of a child with the condition.

I also have an “angels” group of mothers that we’ve created, about 80 mothers that we’ve created embedded through our community that believe in our organization and have the values and understanding of what we believe in as far as like the pro-life and giving these kids and these mothers support and a chance, because there’s nothing that should say that we don’t get a chance at life. (non-Down syndrome organization)

Some Down syndrome PAGs offered to refer parents to adoption service organizations in the event parents wanted to continue with the pregnancy but were reluctant to parent a child with the condition themselves.

I have a very honest conversation. After those things, about half of the families decide to parent and then the other half, close to half, will decide to make an adoption plan. With that, I stay on this journey with them. We have a registry of 60 families who are approved and ready to adopt a child with Down syndrome. (Down syndrome organization)

Building communities through parent-to-parent support

Many PAG representatives expressed a goal of creating communities in which families could process their diagnoses and ask questions of parents who had previously navigated similar diagnoses and experiences. PAGs often developed in-person and/or online (e.g., Facebook) groups that families could join to build connection to community. Online options became particularly relevant during the height of the COVID-19 pandemic, when most in-person activities were canceled.

I’ve seen a wave of change and especially with the use of technology and social media and so many places now that have created the Facebook groups and all of those online platforms. Families are also very savvy and being able to make those connections through their needs as well. (Hospice organization)

We have a diverse Facebook group. We have parents in all stages: those that have terminated, those that are caring for a living child, those that have lost their children. (non-Down syndrome organization)

Some participants expressed concern that Facebook groups were biased toward the sharing of positive experiences. They noted that a lack of nuance in the portrayal of lived experience with children with genetic conditions can lead parents to unfair comparisons with their own experience and their child. Participants stressed the importance of presenting a spectrum of experiences and developmental trajectories.

Especially on Facebook, we often have so much of just the positives. I think that’s an important thing, that families if we only highlight all of the kids with Down Syndrome who’ve done really well. Sometimes it makes people who have kids with Down syndrome who aren’t doing well feel like, “well is it something I did wrong?.” (Down syndrome organization)

PAG representatives from local or regional Down syndrome organizations reported offering localized services, such as in-person events or dropping off welcome baskets to new parents in the hospital, to build awareness of communities and enable engagement when parents are ready.

We deliver a “welcome” basket that’s probably $200 in value. It has diapers and wipes and baby gifts, some clothes, some quilts that are handmade by local quilting guilds—those are donated to us—and then some books about Down syndrome that describe a variety of medical or developmental milestones, so a family’s educated. And then parent narratives, and two children’s books that feature babies with Down syndrome because we want these children to see themselves reflected in literature which, unfortunately, there’s not a lot of books featuring kids with Down syndrome. (Down syndrome organization)

Limitations of PAGs

Some participants reported that their PAGs were unable to realistically provide some components of support that they wished they could offer. One example noted by several participants was financial support for families, particularly for medical and educational needs, such as specialists or additional tutors.

The biggest thing that keeps [parents] up at night is the funding for everything that is outside the scope of our organization. (Down syndrome organization)

We do offer scholarships, but we haven’t been able to wrap our brain around—it’s not really in our mission—how to financially support families, so at this time we don’t really offer that. So that’s kind of upsetting. (non-Down syndrome organization)

Many respondents expressed a wish for additional funding for the organization itself in order to expand services or offer support to more families. This desire was most commonly expressed by organizations that served families with rare genetic diagnoses or smaller organizations with few or no full-time staff.

I’m a one-man band with a few other people helping out, and our funding is quite low, so we can only do so much. (non-Down syndrome organization)

There are many things I would like to do, and I can’t because of funding. And there’s a lot of frustration in that, because I feel like there’s a ton of funding that’s gone into cultivating testing, but not the infrastructure to support families on the other end of the test. (Down syndrome organization)

In addition, several participants shared a desire to offer resources in multiple languages. Some PAGs had developed limited Spanish-language resources; few indicated that their materials were in a language other than English or Spanish.

We always wanted to have more written resources in other languages. It’s always a resource battle of where to put the priorities. (non-Down syndrome organization)

We struggle with [supporting] our Spanish-speaking populations. We do have some resources that we’ve cobbled together from other entities. (Down syndrome organization)

Several PAG representatives stressed that they were limited in the medical advice or referrals they could offer because they did not have licensed medical professionals on staff. Several participants noted that their organizations referred families back to their healthcare provider for medical and mental health support.

I think the medical part is outside my scope. Aside from giving diagnosis information and information about typical development of people with Down syndrome, any specific medical questions need to be answered by somebody that has that expertise. (Down syndrome organization)

I try not to do too much with the medical stuff, unless it’s something I can reference on our website, because I’m not a doctor. (non-Down syndrome organization)

[Families] quite often contact us and say, “Do you know any specialists in this area,” but that’s something we would bounce back and say that’s where you have to go back and ask advice from the geneticist that you saw, or your [general practitioner] or somebody at the hospital. (non-Down syndrome organization)

Finally, PAGs reported different levels of training for their volunteers and employees, depending on the size and breadth of their organization. Larger organizations tended to offer more formalized trainings. Other organizations trained new members as they came on board and if they had personal experience with the condition, they were often encouraged to share that knowledge. Representatives that had no personal connection to the condition reported that they relied on other people’s experiences to relate to families.

Never fully prepared

Several participants emphasized that no parent is ever fully prepared for a new baby, regardless of diagnosis status. Participants stressed that even the diagnosis of a well-characterized and comparatively common condition, such as Down syndrome, encompasses considerable variability and uncertainty about the future health and lived experience of a child.

I don’t know if we have a family ‘totally prepared.’ Because I think when anybody has a baby, you don’t know what their life’s going to be like, so there’s a little of that having a child with a genetic disorder. (Down syndrome organization)

I don’t think any of us are prepared at all. We have varying degrees of preparation. That child changes the whole environment and structure of the home no matter what, typical or not. (Down syndrome organization)

Several interviewees highlighted the phenotypic uncertainty of most genetic conditions and the difficulty in providing parents with reliable forecasting of their future.

You can never really be prepared, I don’t think. … [With] my second one, I should be prepared because I already had a child with [genetic condition]. But even then, it was so different. Even having the exact same deletions. The needs and things were so different that I can’t say that I was prepared. (non-Down syndrome organization)

One PAG representative who supports conditions that are often fatal soon after birth said:

I don’t know if you can be really prepared, because you don’t know what’s going to happen. (non-Down syndrome organization)

Overall, participants stressed that resources and community connection are essential to preparation, but each child is an individual with their own strengths, limitations, and needs. Raising any child comes with challenges, many participants pointed out, and a genetic diagnosis is only one among many.

Discussion

This study explored the perspectives of support groups regarding prenatal preparation for a child with a genetic condition and the role that their organizations play. The period between receiving prenatal genetic information and the conclusion of the pregnancy is a challenging one: families face time pressures, ongoing medical and social uncertainty, and the need to make decisions with lifelong implications. Participants reflected, often critically, on the value and scope of their work and its challenges and limitations. That work is shaped by the conditions they support and their unique characteristics: Down syndrome-focused PAGs may offer resources for child-focused advocacy and activities before and after birth, while PAGs focused on often-fatal conditions may accompany parents through difficult experiences of pregnancy loss, termination, or infant death. The meanings and components of prenatal preparation varied widely across these contexts, but all these groups placed value on family-centered information, parent-to-parent support, and community-building.

Unmet needs of the parent community

Most participants had come to their work through personal experience, most often parenting a child with a genetic condition. That shared background shaped interviewees’ commitment to providing social support and information to families experiencing a similar situation. Prior studies of parents recruited through PAGs have frequently documented poor diagnostic experiences and emphasized the value of social and informational resources provided by PAGs (Skotko 2005; Walker et al. 2008; Nelson Goff et al. 2013; Lehman et al. 2021; Riggan et al. 2021). Parents often form the backbone of PAGs, as both volunteers and staff, and their experiences enrich the ability of PAGs to connect with future parents. However, research has shown that volunteer activities are more achievable for individuals who are older and/or more affluent (Nesbit et al. 2018; Americorps, Office of Research and Evaluation 2021), and white families–especially white mothers–have historically comprised the majority of PAG staff and membership (Erkulwater 2018; Reed and Meredith 2020). Parents with the ability to devote time to nonprofit work are less likely to be from socially disadvantaged groups, and people from minorities and underserved communities may be less inclined to join groups in which they do not see their identities and experiences represented. It is worth noting, however, that Black and Latinx people in the USA are similarly unlikely to have a physician who shares their racial or cultural identity: only about 11% of US physicians are Black or Latinx (Association of American Medical Colleges 2019). This imbalance may further influence the extent to which patients are referred to PAGs and access to culturally competent support. Thus, while many genetic diagnoses such as Down syndrome and other aneuploidies are evenly distributed across racial and ethnic categories, Black, Latinx, and other people of color may not benefit from PAGs to the same extent as their white counterparts.

A few participants explicitly acknowledged these limitations, particularly the ways in which a lack of diversity limited the ability to meet the needs of families who were not white or English-speaking. Of the resources mentioned by participants, only a few are available in a wide range of languages: most notably, those provided by the Lettercase National Center for Prenatal and Postnatal Resources (lettercase.org) and Unique (rarechromo.org). These limitations may be partially due to financial constraints; many PAGs, especially those supporting rarer conditions with smaller constituencies, receive limited, if any, external funding (Leach 2015; Meredith et al. 2016). Active measures are beginning to address these concerns, including diversifying funding efforts to support additional languages and the creation of sub-groups to meet intersectional needs, such as the recently formed Black Down Syndrome Association (blackdownsyndrome.org).

Prenatal support for families

Many participants stressed that their PAG strives to be non-directive in counseling families deciding whether to continue a pregnancy with an affected fetus. However, given that many PAG staff are parents of a child with a genetic condition and/or personally affected, interviewees noted that PAG representatives with strong personal views on pregnancy termination and/or the social value of persons with the condition encountered an inherent conflict in counseling these parents. Indeed, research has found that some Down syndrome advocates limit their audience to those who have already decided to continue a pregnancy in order to avoid socio-politically fraught conversations around abortion (Reed and Meredith 2020). Nevertheless, most PAGs in our study made some attempt to support families throughout the decision-making process.

Respondents felt that their organization served unique needs not found in medical settings, namely, understanding the lived experience of individuals and families with the genetic condition. Previous research has found that one of the top priorities for families post-diagnosis was to be connected with other parents of children with DS and to learn more about what life is like for people with DS (Sheets et al. 2011). Even so, a few PAG representatives wished they were in a better position to provide answers to parents’ medical questions, such as via a genetic counselor or physician on staff. Some PAGs, like the National Parents First Call Center (https://mdsc.org/centers-of-excellence/national-parents-first-call-center/), have devoted funds for oversight and consultation from a certified genetic counselor, but such services are beyond the scope of most PAGs.

Some participants, especially those that support rarer conditions, noted geographic challenges in supporting parents across the USA. These organizations stressed the value of the online community they developed. Online forums, such as private Facebook groups, have several advantages: a degree of anonymity for difficult questions; the immediacy of responses; and the ability to connect with a wider range of parents locally and across the nation (DeHoff et al. 2016; Barton et al. 2019). Online patient groups, like their in-person counterparts, must contend with group dynamics, including group conformity, which have the potential to marginalize parents with less common or more challenging circumstances or individuals from socioeconomically diverse groups. The rapid increase of these groups (Titgemeyer and Schaaf 2020), however, suggests that the psychosocial impacts that accompany prenatal (or postnatal) diagnosis of genetic conditions may be inadequately supported by the medical community. Moreover, few established guidelines exist for the prenatal or pediatric clinical management of rare medical conditions (Bull et al. 2022), which may leave parents turning to their peers for information on how to benchmark their child’s milestones and the extent of medical care at each developmental stage.

Our study is limited by its modest size and the limitations of self-reported activities and motivations. Future research directly observing the outreach, counseling services, and other activities of PAGs could illuminate additional strengths, challenges, and biases in the supports these groups offer. For example, although some PAGs described facilitating adoption plans, we did not specifically investigate this aspect of prenatal support and cannot report how frequently parents utilize such services. In addition, the limited number of organizations in this study supporting life-limiting conditions, in addition to the three perinatal hospice organizations in our dataset, may not fully represent the unique and complex circumstances of such conditions. However, our extensive work in seeking out PAGs has shed light on the relatively small size of this sector overall, especially in relation to the rapidly burgeoning prenatal genetic testing industry. Laboratories offering prenatal genetic testing have not historically offered commensurate support to organizations for parents receiving this information, either financially or even through informational referrals (Skotko et al. 2019; Meredith et al. 2016; Leach 2015). Our work sheds additional light on the ethical implications of the widespread offer of prenatal genetic screening without sufficient attention to and funding for post-screening support, which has been noted in other literature (Michie 2020; Meredith et al. 2022). Future research is also needed to more fully understand the ways that healthcare providers and PAGs interact, sometimes with mistrust and at other times with productive collaboration (Edwards and Ferrante 2009). Another research opportunity is determining how patient needs might be better met through the collaborative implementation and dissemination of information and supports among PAGs, national medical and genetics organizations, laboratories, and federal and state government agencies.

Conclusion

PAGs, along with healthcare providers and genetic testing, play a crucial role in supporting families who are preparing for a child with a genetic condition. This role varies according to the nature of the conditions supported, the geographic scope of the group, and other factors such as funding structures and the ethos of the PAG and its members. Nevertheless, common themes emerged from this study of PAGs, particularly a shared emphasis on building communities of support and a common understanding that families have unique needs not solely defined by a genetic diagnosis. While no parent can know exactly what is in store for their child, support from groups with lived experience of particular genetic conditions can contextualize the medical information families receive from healthcare providers and strengthen their ability to navigate new situations, address potential challenges, and discover relative strengths.