“I am happy to be alive, but I prefer to have children without my chronic disease”: chronically ill persons’ views on reproduction and genetic testing for their own condition

Abstract

In Germany, the debate on preimplantation and prenatal testing is heavily influenced by the idea of an antagonism between prospective parents and their potential children. Underlying this antagonism is the assumption that prospective parents follow an ableist logic and do not regard the lives of children with a chronic illness as “worth living”. Taking the example of two rare genetic illnesses, Marfan Syndrome and Cystic Fibrosis, we investigate how persons who themselves are affected by these conditions view preimplantation or prenatal testing for their condition in the context of reproductive decision-making. Our empirical research shows that chronically ill patients’ appreciation of their own life as a “life worth living” does not always translate into an unequivocal wish and readiness to give birth to a child that is affected by their condition as well and argue that taking their views into consideration adds an additional level of complexity to the debate.

Keywords:

• Carrier testing
• Pre-Implantation Genetic Testing (PGT)
• Prenatal Genetic Testing (PNT)
• Germany
• Marfan Syndrome (MFS)
• Cystic Fibrosis (CF)

Introduction

Research on prenatal testing across a wide range of disciplines has shown that the decision-making processes that surround these kinds of tests cannot be understood without taking into consideration the contexts within which they are (or are not) used (Löwy 2022). On the one hand, this concerns “reproductive imaginaries” (Ginsburg and Rapp 2020) which vary across different social, cultural, and national contexts and due to which technologies such as prenatal testing are viewed and valued in varying ways (e.g. Hashiloni-Dolev 2007; Perrot and Horn 2022), and on the other, the individual situational and relational setting within which prospective parents make a decision for or against testing (e.g.Reinsch, König, and Rehmann-Sutter 2021). The latter is heavily influenced by the former and further shaped by political and legal regulations of genetic testing in a given (national) context (Li and Allyse 2016; Perrot and Horn 2022).

In this paper, we focus on prenatal genetic testing in Germany – a country whose reproductive imaginary is strongly influenced by the history of Nazi eugenics and euthanasia and resulting concerns about the “(de)valuation of certain lives” which, “[w]hile they are present in other countries, […] are particularly emphasized in Germany due to historical context” (Bowman-Smart, Wiesemann, and Horn 2023, 563). A central element of this history is the idea of certain lives “unworthy” of living – a question that has been debated within philosophical and ethical discourse within and beyond Germany for centuries (Hohendorf 2013). In early twentieth century Germany, this idea became an integral element of Nazi ideology, resulting in approximately 216,000 people with disabilities being deemed “unworthy of living” and systematically killed between 1940 and 1944 (Hohendorf et al. 2003).

Like elsewhere, prenatal genetic testing and its potential to lead to pregnancy termination is subject to continuing debate, most recently in the context of the introduction and health insurance coverage of non-invasive prenatal testing (NIPT) (Braun and Könninger 2018). Moreover, like in other countries, the debate oscillates between the appraisal of prenatal genetic testing as a scientific achievement versus its rejection in combination with the endorsement of diversity and disability justice – two in many ways contradicting views Ginsburg and Rapp call “the disability paradox” (2023, 285-286). Against the specific German historical background, however, this debate and especially the criticism of prenatal testing in connection to the idea of the “worth” of life, carries particular weight (Braun 2007).

The historical legacy echoes in current debates and concerns have been voiced across a wide political and societal spectrum within German society, creating unlikely bedfellows such as conservative pro-life organizations, feminists, and disability rights activists (Braun and Könninger 2018, 252). An important element of this position is a focus on what bioethicists and scholars of law have termed “maternal-fetal conflicts” (Flagler, Baylis, and Rodgers 1997; Markens, Browner, and Press 1997): the assumption that pregnant individuals¹ (and their partners) and the children they carry may assume antagonistic positions, particularly when the latter are affected by conditions that cause disability and/or chronic illness which cannot be “cured” through medical treatment and when, based on a “positive” test result, prospective parents consider or decide to discard affected embryos (pre-implantation) or terminate the pregnancy (post-implantation), thereby using testing as a “selective reproductive technology” (Gammeltoft and Wahlberg 2014). Underlying this imagined antagonism is the assumption that prospective parents cannot imagine, or feel forced, unfit, unable, or simply unwilling to raise a disabled or chronically ill child, and that the reason for the decision against such a child is an ableist reproductive logic. To this effect, the German Network Against Selection Through Prenatal Diagnostics² in a 2011 statement emphasized “the right of every child to acceptance as the cornerstone of a humane civilization,” adding that parents do not have the right to a healthy child and that being a parent also includes taking on responsibility for children who do not meet their parents’ prior expectations.³ The debate is thus heavily influenced by the juxtaposition of prospective parents’ assumed ableism and the rights of disabled or chronically ill fetuses to be born and live. In contrast to arguments that emphasize the structural components of prospective parents’ decision against the birth of a disabled or chronically ill child (Achtelik 2019), on an individual level, this decision is often ascribed to a lack of knowledge about chronic illness or disability⁴ (Lenhard et al. 2005; Linke 2014), misconceptions of what constitutes a “good life” or “life worth living” and a more general ignorance regarding disabled people’s potential to live such a life (Deutscher Bundestag 2019).

While we do not deny that this binary opposition may apply to certain pregnancies, in this paper we argue that it lacks complexity as it ignores the considerable number of pregnant persons who have “experiential knowledge” (Boardman 2014) of chronic illness or disability because their children, other family members, or they themselves are affected by such conditions. These persons, therefore, make decisions regarding testing and pregnancy termination against the background of this knowledge and these lived experiences. Especially when they themselves are affected by such conditions, the opposition of non-disabled/non-chronically ill parent versus disabled/chronically ill child does not hold up. Rather, their experiences, views, and decisions add an important level to the discussion that, especially in Germany, has so far been largely ignored.

Our analysis is based on long-term empirical research in Germany with persons affected by two so-called “rare diseases”: Cystic Fibrosis (CF) and Marfan Syndrome (MFS). Rather than making broader claims about the use of prenatal testing, we use these two conditions as a lens through which we can make visible the complexity, situatedness, and relationality of decision-making regarding prenatal testing and the birth of children with a disability or chronic illness in the face of in-depth embodied knowledge of what that condition means for one’s own and a child’s everyday life and how they relate to one another. We argue that the inclusion of empirical research on the perspective of these prospective parents and the relational and situational factors that inform their reproductive decisions in light of their own and embodied experiences contributes to a more nuanced and comprehensive understanding of pre-implantation and prenatal genetic testing in general.

Prenatal genetic testing

Prenatal genetic testing is the umbrella term for a set of techniques that allow the detection of phenotypic and genotypic variations of the fetus in order to “see what is about to be born” (Löwy 2018). While, strictly speaking, “prenatal” testing only applies to already existing embryos or fetuses who have the potential to be born, in this article we also include testing procedures that are performed before fertilization, especially carrier testing, as all of these technologies have one important thing in common: the goal to detect and/or avoid fetal “abnormalities.” In industrialized countries, the technological search for such abnormalities commenced in the 1960s. Initially reserved for older women and those with a family history of birth defects, it has since then continuously expanded, both in scope and reach, to become an integral component of routinized prenatal care (Löwy 2017). As a result, tests are now able to detect ever-increasing numbers among the immense variety of genetic abnormalities, ranging from spontaneous mutations (e.g. chromosomal conditions such as trisomies) to hereditary genetic conditions that are either passed on recessively, resulting in a variable probability that the offspring will carry the mutation (e.g. Cystic Fibrosis or Thalassemia), or passed on dominantly, meaning there is a 50% risk for offspring to invariably carry the condition (e.g. Marfan Syndrome, Chorea Huntington). When one parent is known to carry a mutation, carrier screening can be used to determine the status of the second potential genetic parent in order to calculate the probability for offspring to be affected. When parents are known carriers of a hereditary condition, it is possible to resort to in-vitro fertilization and subsequent preimplantation testing of the embryos for a specific mutation in order to select non-affected embryos for implantation.

The legal regulation of pre-implantation and prenatal testing in Germany

Completed in 1990 and coming into effect in 1991, the Embryo Protection Act (Embryonenschutzgesetz, ESchG) was an attempt to regulate the newly emerging assisted reproductive technologies that gained increasing popularity after the birth of the first IVF baby Louise Brown in the UK in 1978. The ESchG was drafted with the country’s Nazi history in mind, its division of the population into “worthy” and “unworthy” life, and related eugenic concepts of health, normality, and genetic value (Jasanoff 2005). Accordingly, the protection of the embryo and the prohibition of the use of surplus embryos for scientific research and experimentation are central elements of this law. Clause 3a of the Embryo Protection Act prohibits the removal of cells from an embryo for genetic testing prior to implantation. Since 2011, however, following years of political, ethical and legal debates and a legal precedent set by the Federal Court of Justice in 2010, a passage was added to the ESchG which exempts PGT from punishment if one of the genetic parents is affected by a serious health condition that is likely to be passed on to the child or if the embryo is likely to be affected by a defect that leads to miscarriage or stillbirth (Krones and Hirschberg 2022). In order to access PGT, however, prospective parents need to seek approval from one of five regional interdisciplinary ethics commissions before having the embryo/s tested in a certified medical facility. In contrast to other countries (e.g. UK⁵), however, there is no list of conditions which qualify for PGT. It was argued that in order to avoid discrimination of persons with certain conditions, ethical review should take place on a by-case basis (Albrecht and Grüber 2019).

Genetic testing and reproductive decision-making among carriers and persons affected by hereditary genetic conditions

While empirical research on ethical, moral, and social implications of prenatal (and preconception) testing technologies has been conducted in the social sciences and neighboring disciplines in a variety of countries (e.g. Ginsburg and Rapp 2020; Heinsen 2022; Löwy 2018; Rapp 1999; Rothman 1986), there is a striking lack of empirical research and nuanced analysis of the use of these technologies in the particular context of Germany. This research gap is even more pronounced when it comes to the views of and response to the option of prenatal genetic testing by prospective parents who themselves are affected by hereditary genetic conditions, and the personal, relational, moral, and political issues that arise from this medical practice.

Internationally, in addition to research on views of genetic testing more broadly, several studies provide insights into the opinions and experiences of parents who possess “experiential knowledge” (Boardman 2014) of disability and chronic illness. However, especially earlier studies (e.g. Hill 1994; Wertz 1992) were conducted at a time when treatment options of the conditions tested for were much less advanced and when, at least for some conditions, life expectancy was considerably lower than today. Accordingly, many patients did not even reach an age where they would consider having children and research thus solely focused on their parents.

A scoping review of three rare genetic conditions (Gee, Piercy, and Machaczek 2017) has shown that more recent research still predominantly investigates the views of persons who have a child or children with these conditions while not being affected themselves (Götz and Götz 2006; Kelly 2009; Myring et al. 2011; Read 2002; Schultz et al. 2014). Despite a wide variety of research foci, all studies within this body of literature clearly show that reproductive decision-making in the face of genetic conditions does not take place in a vacuum but is always relational and situational (Dimond et al. 2022). For example, one study with parents of children with a genetic condition showed that their experiential knowledge of life with such a child led them to “choose not to choose” whether or not to give birth to another affected child by avoiding future pregnancies or refusing prenatal testing in subsequent pregnancies (Kelly 2009). Over time, however, again informed by everyday life experience, affected children’s parents’ attitude toward testing in subsequent pregnancies have also been shown to be subject to change (Sawyer et al. 2006). Sociocultural factors and legal regulations, too, impact parents’ attitudes regarding reproductive decision-making and prenatal genetic testing, as has, for example, been shown in studies in Japan (Hiromoto et al. 2023), Pakistan (Hanif et al. 2023), and comparatively for Israel, Cyprus, and Germany (Kivity and Barnoy 2023).

A much smaller body of literature considers the views of persons themselves affected by the genetic condition that may be tested for. This research illustrates the complexity of the topic and shows that the views of affected patients may greatly differ, ranging from support of testing as a technology that enables patients to exercise “responsible parenthood” by not bringing an affected child into the world to the disapproval of testing with the argument that it devalues the worth of the lives of people with genetic conditions (Boardman and Hale 2018). Boardman and Hale further show that these differing attitudes were linked to the extent to which their research participants identified with their impairment: while those who saw their sense of self and identity as separate from their condition tended to be in favor of genetic testing, patients who viewed their disease as a part of their selves and identity criticized testing for its potential to reduce affected persons to their genetic condition, thereby devaluing the worth of the entire person (2018, 953). In contrast, in a study with patients affected by a rare genetic cancer syndrome that has a high risk of manifesting in early in life, almost all research participants were supportive of preimplantation genetic diagnosis and claimed it to be their preferred method of reproduction (Forbes Shepherd et al. 2022). Here, the idea of “genetic responsibility” (Hallowell 1999), that is, the wish to prevent their future children from being affected by the condition, was dominant among research participants; however, some of them, too, expressed concerns regarding embryo selection as a technology that would have prevented their own birth which they felt in a sense indeed questioned the worth of their own lives (Forbes Shepherd et al. 2022).

As these examples show, views of preimplantation or prenatal genetic testing and these technologies’ potential to prevent the birth of affected children mirror the complexity of this topic and its relational and situational embeddedness. Accordingly, approval of testing and consideration of pregnancy termination cannot simply be equaled with ableism and the devaluation of the lives of disabled or chronically ill persons; rather, it may also result from the wish to exercise responsibility towards potential offspring. Taking into account the experiential and embodied knowledge of persons themselves living with hereditary genetic conditions is particularly illuminating as it helps to overcome the assumed and rather simplifying antagonism between prospective parents and children that continues to inform current debates on carrier, preimplantation and genetic testing.

Heritable genetic illness and reproduction: marfan syndrome and cystic fibrosis

This article emerged out of our research on gestational surrogacy (e.g. as a reproductive option for MFS patients) and reproductive decision-making of patients with Cystic Fibrosis, respectively. In our continuing conversations on key issues and results of this research, as well as our shared interest in genetic testing more generally, we discovered that, despite considerable differences between the traits of the chronic conditions MFS and CF, our research participants faced similar challenges regarding reproductive decision-making, the option of testing and “selecting,” and the ethical and moral questions this entails. Moreover, both conditions have in common that they are “rare” hereditary genetic illnesses that strongly affect patients’ everyday lives, require intense medical monitoring and care, decrease life-expectancy, and have a negative impact on fertility and/or pregnancy for either or both mother and child.

Marfan Syndrome is a genetic disorder of the connective tissue which predominantly affects the skeleton, the eyes, heart, and aorta, but may also affect a range of other organs (Pyeritz 2000, 484). Many patients with Marfan Syndrome suffer from considerable cardiovascular problems (Pyeritz 2000). The condition has an estimated prevalence of 2-3/100.000 (Judge and Dietz 2005); according to the German patient association Marfan Hilfe, it affects between 8.000 and 16.000 individuals in Germany.⁶ Not all persons affected by Marfan are diagnosed and if untreated, their life expectancy is somewhere in their late thirties to early forties (Pyeritz 2021). However, if their disease is diagnosed and effectively managed, MFS patients’ life expectancy has approached that of the general population. Marfan Syndrome is an autosomal dominant hereditary disorder and there is thus a one-in-two chance of passing it on to the child. In pregnancy, women with Marfan Syndrome are at high risk of complications, affecting both the pregnant woman and the fetus. Here, aortic dissection is a major cause of maternal morbidity and mortality (Goland and Elkayam 2017). All pregnancies of people with Marfan Syndrome are regarded high-risk and may also have long-term adverse effects on the mother’s health (Mulder and Lilian Meijboom 2012). Accordingly, depending on the manifestation of the condition, some patients may be advised to refrain from becoming pregnant at all. Preimplantation and prenatal genetic testing of MFS is comparably difficult because it requires concrete knowledge regarding the affected parent’s specific mutation; another option is echocardiography which, however, can only be performed in the third trimester (Goland and Elkayam 2017).

Cystic Fibrosis (CF) has a similar prevalence as Marfan Syndrome, affecting around 8.000 individuals in Germany (Nährlich, Burkhart, and Wosniok 2022). Although the condition affects a variety of organ systems, the hallmark of morbidity and mortality is the lung’s inability to transport mucus from the airways. This results in frequent respiratory infections, with subsequent scarring of the lung tissue and declining respiratory capacity. Resultant pulmonary complications include pneumothorax (collapse of the lung), massive hemoptysis (bleeding in the lungs), and respiratory failure (Boucher 2008). While there is no cure, the progression of CF can be slowed by comprehensive disease management, with a median survival age (i.e. the age expected to be reached by 50% of CF patients) of 54.28 years for those living in Germany in 2021 (Nährlich, Burkhart, and Wosniok 2022). Current treatment requires vigorous chest therapy and inhalation for up to two hours per day, involving up to seven different medications, and necessitating ongoing support by a comprehensive care team in a highly specialized CF center (Sawicki, Sellers, and Robinson 2009). CF patients and their caregivers face significant humanistic and economic burden (Daly et al. 2022) which by far exceed that of the general population (Kimball et al. 2021). With the increased number of patients who due to improved therapies reach adulthood, life goals characteristic for this stage in life, such as entering a partnership and starting a family, have gained importance for people with CF (Jacob, Journiac, and Fischer 2022; Jain et al. 2022). However, the condition also diminishes CF patients’ fertility: it affects cervical mucus, thereby making it difficult for women to conceive (Jain and Taylor-Cousar 2021). Most men with CF lack spermatic ducts and are thus functionally infertile, therefore requiring medical intervention if they wish to reproduce (Shteinberg et al. 2019; Ullrich, Bobis, and Bewig 2015). Despite these difficulties, having children has become a realistic option for patients with CF (Hughan et al. 2019; Kazmerski et al. 2022). As CF is an autosomal recessive disease, the probability of being passed on to offspring depends on the carrier status of the partner/second genetic parent. If the partner is a carrier, which in Germany applies to approximately 1 in 25 persons, the probability of passing on CF to the child is one in two (Nährlich, Burkhart, and Wosniok 2022). Despite the improved life expectancy and quality of life, a review of studies in Europe, the US and Australia has shown that almost 95% of pregnancies among CF carriers where the fetus was found to be affected were terminated (Kessels et al. 2020).

Methods

This article is based on two empirical research projects: an ongoing ethnographic research project on transnational surrogacy commissioned by German intended parents (Anika König) and a project investigating reproduction and genetic testing in people with cystic fibrosis in Germany (Stefan Reinsch). Although the projects were not connected during the empirical research phase, in conversations about our respective data we found similarities and overlapping themes which called for joint analysis. Both projects included (surrogacy) or focused on (CF) (prospective) parents affected by a genetic condition for which genetic testing is possible. We were interested in how the embodied experience of a health condition that strongly affects patients’ everyday lives, including their ability to care for other (potentially also ill) persons, influences their view of genetic testing and the option to prevent the birth of an affected child.

Both studies are based on long-term ethnographic engagement with our research participants. Together, we conducted more than 30 formal interviews with persons who had MFS (Anika König) or CF (Stefan Reinsch). These were complemented with informal conversations, emails, text messages, a diary written by a Marfan patient, and participant observation. Our sample consisted of one women with MFS and her partner, seven people with CF (four women, three men), five parents of children with CF and 15 members of several CF care-teams (physicians, psychologists, and social workers). Some of our participants were interviewed only once and others several times; some alone and others with their partners. At the beginning of the research, the woman with MFS and her partner were still in the decision-making process of whether to have children or not, but then decided to commission gestational surrogacy (i.e. the carrying of their own embryo by another person) in combination with genetic testing. They continued participating in the research when preparing and undergoing various genetic tests. Among our participans with CF, one woman and one man had children. The woman was pregnant at the time of the first interview and her child was two years old when interviewed for the second time. The man had three grown-up children at the time of the interview. Both of their partners had undergone carrier testing prior to pregnancy. Two women with CF and one man were considering becoming pregnant and one women and one man did not want to have children. Interviews were transcribed and other interactions with research participants documented in fieldnotes.⁷ We first individually reviewed our empirical material, subsequently identified the common topics, and together analyzed the relevant interview passages with a particular focus on the connection between our research participants’ experiences with their own health conditions and their views of prenatal genetic testing for their own condition. Finally, in order to contextualize the lived experiences of our research participants and situate our findings in the specific German context, we reviewed legal documents, commentaries, policy papers, and government as well as ethics committee reports.

For the study on CF, ethics approval for this research was granted by ethics comitee of Brandenburg Medical School - Theodor Fontane. The study on surrogacy did not undergo an official ethics review as social science research in Germany does not require ethics approval but the research was conducted in accordance with the ethical guidelines specified in the Frankfurter Erklärung by the German Association of Social and Cultural Anthropology. We obtained informed consent from all participants in our research projects.

Accounting for testing

The analysis of our data revealed three main arguments people with Marfan and CF made in favor of carrier, preimplantation, or prenatal genetic testing for their own condition in order to prevent the birth of an affected child: First, the prevention of suffering, mainly for the child but also for the parents; second, worries about negative effects the challenges of caring for a child with a chronic condition could have on their own ill health; and third, the wish to avoid the challenge of conflicting demands of their own and their child’s ill health and the possible necessity to abandon their own needs. In the following, we discuss these three themes by presenting exemplary cases from our empirical material that illustrate these arguments and highlight their situational and relational embeddedness.

Taking responsibility: genetic testing to prevent suffering

Sabine was in her early thirties when she was interviewed by Anika König. Her mother had been diagnosed with MFS after Sabine’s birth and subsequent tests revealed that Sabine was affected as well. The mother’s health deteriorated considerably as a result of the pregnancy with Sabine, she spent extensive periods of time in hospital, had to undergo several major surgeries and eventually died of complications related to Marfan Syndrome at the age of 60 when Sabine was 25 years old. From early childhood on, Sabine was repeatedly advised to avoid pregnancy as both her family and her doctors were convinced that it was too risky for her health and life. Moreover, she was repeatedly reminded of the 50% chance of her child having Marfan syndrome as well. She recalled that for many years, the fact that she would never have children became an integral element of her identity as a chronically ill person and a woman. Her partner Dustin’s keen wish to become a father while strictly refusing to adopt a child, made Sabine reconsider her view of parenthood:

While thinking and pondering about it, I suddenly realized that I did not categorically preclude the idea of having children any more. After all, I had agreed to discuss it, and I realized that I was indeed open to having children together. (Sabine’s diary, 20.4.2019)

However, she was very worried about passing on the disease. In order to form an opinion, she sought information on what it means to mother an affected child by talking to other MFS patients:

I asked around among the mothers at the annual Marfan meeting. They repeatedly emphasized that their own illness wasn’t as bad as their children’s. The worries and fears would be almost unbearable. (Sabine’s diary, 5 May, 2019)

Such reports on other’s experiences contributed to her positive view of genetic testing as a technology that helps prevent the almost unbearable worries and anxiety that result from having children who are affected as well. Referring to the other women’s stories, she drily commented: “Well. That is something modern medicine can help to avoid.” However, despite her unambiguous decision to undergo PGT, Sabine was also highly aware of the debate around the “worth” of lives in the context of chronic illness and disability. When asked whether she could imagine having a child with Marfan Syndrome, she thus said:

Well, yes, if the alternative is not having a child at all, then yes, right? But, as I said, in principle, I do regard my life to be worth living, but if I have the choice, I would take the one without [Marfan Syndrome]. (Interview by Anika König, 10 August, 2020)

For Clara, a 32-year old women with CF, too, the wish to prevent suffering was a strong motive to avoid the birth of an affected child. Clara had received a lung transplant ten years before the interview and, like in Sabine’s case, a pregnancy would pose a risk to her own life due to her dependency on immunosuppression medication. At the time of the interview, Clara and her partner were contemplating adoption. Due to her own experience with the disease which involved a life attached to supplementary oxygen in her teens after her lung function deteriorated, near-death that could only be prevented by lung-transplantation in her early twenties, and the subsequent constant threat of organ rejection, Clara could not imagine having a child with CF:

And if there is a chance that [the child] can get [CF], I wouldn't do it […] Well, I would rather think about how to explain to the child why I did [give birth to it]. That is ethically, I think, questionable, to let a child come into the world if I precisely knew before, even before conception, that it may be so ill. (Interview by Stefan Reinsch, 2 May, 2022)

The view that CF should be tested for was also held by Alexandra, a young woman with CF who is a member of the working group of adults with CF in Germany. Informed by her conversations and the workshops with people with CF who want to become parents, she strongly believes that they should “always test before the pregnancy […] if the pregnancy is planned […]” (Interview by Stefan Reinsch, 18 August, 2021). For her, testing was not only called for to prevent the birth of affected children, but also, in the form of carrier and preimplantation genetic testing, in order to avoid abortions: “There were some unplanned pregnancies [among people with CF] that have been aborted after prenatal testing for CF.”

The issue of abortion was also raised by Stephan, another CF patient, chairman of the CF association and member of the German ethics council. Thirty years ago, Stephan, himself the father of three children, had been one of the founders of a group of adults with CF, “Living with CF.” The group, which lobbied against abortions of affected fetuses, was founded after a survey found that most parents would terminate their pregnancy in case of a positive prenatal test (Mathy and Olek 1988). Stephan and his partner were “rather anti-abortion in terms of basic sentiment” and would not have aborted. Had his partner been a carrier, they would have chosen not to have children at all. This view is not shared by all parents, as Stephan recalled:

We also have parents in the [CF] association where both are carriers and, therefore, have a 25 percent risk and perhaps already have a child with cystic fibrosis. However, they want to have another child, but don’t want to take responsibility for a second child with cystic fibrosis. And they could, um, do the so-called tentative pregnancy, namely getting pregnant, prenatal diagnostics, then it's positive, then they terminate. We heard of a case where this happened three times in a row. (Interview by Stefan Reinsch, 17 May, 2021)

While Stephan opposes prenatal testing when it facilitates abortion, he sees genetic testing prior to pregnancy, whether in the form of carrier or preimplantation genetic testing, as a tool to prevent these abortions:

And if you then make an ethical consideration, then one must say that it is much better to discard a bunch of cells that’s in a test tube than an almost finished human being, which is then aborted at some point in the 20th week [of pregnancy]. And that's why we said that in these cases, PGT is the lesser evil and if it's restricted to the most serious genetic diseases and it’s done in a controlled way with individualized genetic counseling for the parents and so on, all the conditions that have now been implemented, then it is justifiable. (Interview by Stefan Reinsch, 17 May, 2021)

As our examples vividly illustrate, our research participants shared the wish to take responsibility for the prevention of suffering of their potential children and in a way also for themselves. However, they understood and approached this in various ways. While some, like Sabine, focused on the relational aspect of suffering that included herself and the pain of seeing her potential children suffer, others, like Clara, argued that just by bringing affected children into the world prospective parents acted irresponsibly as these children were likely to suffer from the disease throughout their lives. Others again, like Alexandra and Stephan, saw responsible behavior and the prevention of suffering in testing, preventing the birth of, as well as giving birth to affected children, but clearly differentiated between appropriate timing for each of these actions. However, common to all of these positions was that they refuted the assumed opposition between parents and their potential children but, instead, foregrounded empathy and the relation between parents and children.

Being realistic: genetic testing to prevent negative effects on parents’ health

Anna, a 30 year-old CF patient and physician with a specialization in human genetics at the time of the interview was 21 weeks pregnant. She was in a relationship for six and married for two years, and since the beginning of her current relationship had wanted to have children. However, she had doubts about this wish becoming true: “It was clear from the beginning that we wanted children. […] In how far that was practically possible, I didn’t know” (Interview by Stefan Reinsch, 4 June, 2021). Anna has a respiratory capacity of 80% and is thus well above the limit of 60% physicians have deemed acceptable for a pregnancy in people with CF. However, all people with CF continuously have to go through great efforts to keep their health stable. For Anna, besides working as a geneticist, this means investing around three hours into therapy per day. To Anna, this seemed to be too high a barrier to also be able to care for a child. Like Sabine, Anna reflected on her own childhood, but with a particular focus on the time and energy her mother had to invest into Anna’s CF therapy. Anna and her husband had discussed the possibility that their children might have CF and were both in favor of testing:

Yes, indeed, yes. He is a physician as well, and it was clear for both of us that we want to test for it, for me even a bit more than for him. He would have been ok with a child who has CF. But I said at the beginning, pretty categorically, I do not want that, under no circumstances. […] Now as it became more concrete, I wouldn’t have cared, but he is a non-carrier, so it was a bit easier.

And she continued by elaborating her reasons:

I couldn’t imagine [having a child with CF]. Simply because I saw the effort my mother had to put into it. And that I would also want to put in, so my child is doing as well. But then, yes, then, when I have to take care of my CF on top of it, then somehow, there is no more time left. That’s why I am pretty happy [laughs] that it is now as it is [getting pregnant spontaneously and unexpectedly and not having to make a decision about PGT]. (Interview with Anna by Stefan Reinsch, 4 June, 2021)

In contrast to the earlier arguments for testing that emphasized the prevention of suffering from the disease itself, Anna’s main argument focused on her time and energy-consuming therapeutic regime which made her question her ability to parent a child at all. Having a child with CF would result in a “double therapeutic burden” she was not sure she could handle and which could potentially also negatively affect her own health.

The worry about the amount of health-preserving therapy in CF was a view that was shared by people with CF, patient representatives, and also CF physicians. This problem becomes even more prominent when both prospective parents have CF. In these cases, the probability of the child having CF is 100 percent and both parents need to also take care of their own health needs. Arthur, a professor of internal medicine who has worked with people who have CF for over 15 years, recalled a case at the center where he worked where two people with CF wanted to have children:

Yes, we had such a case. Only that the man wasn’t the sperm-donor, but someone else. They took the sperm from someone else because they didn’t want to have a child with CF. They didn’t want to raise a sick child. […] For people with CF, the therapy burden is so high and when they have to do so much therapy, they don’t want to have a child they have to do therapy with as well. I mean, when three people have CF you cannot manage it – if both have to do therapy and then the child has to be supervised. There, they were totally realistic. (Interview by Stefan Reinsch, 20.01.2021)

Arthur frames the decision against biological offspring as a “realistic” decision because he considered the amount of therapy the three would have to do to be unmanageable. A similar argument was made by Clara, who because of her lung transplantation chose not to have own biological children. When discussing the theoretical option of having a child, she argued that with deteriorating health it would be even less possible for her to care for a child, which is already difficult due to her extensive therapy and health condition:

And then when [the child] is there, when I realize then that I can't take care of myself anymore, how will I take care of a child. […] I've come to terms with it and I think we're just better off like that. It took a bit, it still hurts sometimes, but you also have to think and stay a bit realistic. (Interview by Stefan Reinsch, 22 May, 2022).

Sabine, who had seen her mother’s health deteriorate considerably, had always been told that this was due to the pregnancy with her, and, therefore, was highly aware of the detrimental effects having a child – and even more so a sick child – could have on her own health. Moreover, she doubted her partner’s ability to care for her and a child:

I really don’t know if parenthood is realistic for him or for us. […] He doesn’t seem to be particularly resistant to stress. How can he lead a life that in itself is already stressful and then the additional stress with a child if it is already almost too much with me [as a sick person]? (Sabine’s diary, 23 April, 2019)

Accordingly, these research participants raised the issue of “being realistic” regarding their physical and mental resources to care for chronically ill children and the possible toll this could take on their own health. For Clara, testing was a tool to prevent this excessive risk to her health, while for Sabine – at least in this conversation – it was not having children that prevents this risk.

A decision for us and not at all against the child

In contrast to the earlier mentioned argument that genetic testing facilitates an opposition between parents and child as it aims at preventing the birth of affected children, some of our interviewees saw it the other way round. They worried about the challenges of balancing their own and their affected children’s needs and the conflict that could potentially arise from this setting. While for many of our research participants, this concerned having children in general, conflicting needs would be exacerbated if they had a child with special needs.

Some, like Sabine, had experienced such conflicts themselves during their childhood. She repeatedly mentioned an opposition between her own and her mother’s needs as sick persons, the unequal amount of attention paid to them by others and the effects it had on her as a child:

I am realizing that I am angry with mum because due to her illness she was often not approachable to me. At the same time, I forbade myself to be angry because she was the star in our family, everything centered on her. I was left at my grandma’s place who maybe saved me emotionally. (Sabine’s diary, 22 September, 2019)

While Sabine focused on the child’s perspective, which despite its own illness did not receive enough attention, Anna addressed the possible conflict between affected parents’ and children’s needs from her position as a potential mother:

If we had said, we are not going to have a child with CF, that would have been rather a decision for us and not at all against the child. I consider my life totally worth living. And that I would have wanted to offer to my child as well. Only I wouldn’t have wanted to give myself up that way. […] Simply because I know how much time you have to invest, and if I have to invest that time twice, then simply nothing is left nowhere. That means, it was a rather selfish thing, not at all “the life wouldn’t be worth living.” (Interview by Stefan Reinsch, 4 June 2021)

Alexandra even expressed understanding for pregnancy termination after a positive test result as she saw the burden the care for her had put on her mother. Her mother once told Alexandra that, had she known of Alexandra’s CF, she would not have wanted a second child. Asked how her mother’s statement made her feel, Alexandra claimed:

I understand it, I am working myself with children with special needs. For a single mum, it was difficult to raise a child who needs so much therapy.

Responding to the question if she would have felt offended had her mother undergone prenatal testing for CF when pregnant with Alexandra, she calmly said:

I am happy to be alive and I would say a life with CF is a life worth living, but I wouldn’t hold a grudge if my mother had tested me prenatally and chosen an abortion. It is an individual decision one has to respect. (Interview by Stefan Reinsch, 21 May, 2021)

However, even those who were in favor of testing did not unconditionally see it this way. Some, like Stephan, only found tests acceptable that are performed prior to pregnancy and strictly opposed the abortion of affected fetuses as in his view this was indeed a decision against a child. Others, like Anna, emphasized the situational aspect – differentiating between those who have the condition and for whom it is difficult to take care of a chronically ill child, and people who themselves do not have to carry the burden of a chronic illness and simply wish to “screen out” children with chronic illness or a disability. Accordingly, asked if she, as someone who has CF, was pregnant at the time of the interview, and who also works as a human geneticist, thinks that all prospective parents, and not only those affected themselves, should have the possibility to test their fetuses for CF, Anna replied:

Spontaneously, I would tend to a no. Because then, at some point it could be extended to all illnesses. I don’t know if that is the meaning of life, that you prepare for everything before and exclude all illnesses beforehand, in order to then maybe select them out. That somehow is part of life. I believe, with these NIPT you can already test some of these recessive illnesses. Yes, CF has been included into this for two years. Exactly, and that I somehow – I somehow find that difficult. I don’t like that so much. (Interview by Stefan Reinsch, 4 June, 2021)

Moreover, while some CF patients, like in the example recalled by Stephan above, decided to terminate their pregnancy after a positive PNT result, some of those who were generally in favor of testing in the end still decided not to test, thereby avoiding to have to make a decision, or, as Kelly termed it, “choosing not to choose” (2009). This was the case with Anna:

Well, I do not really, well I – I believe, even if my husband now had been a carrier, in the end I would have taken the chance. Then it would possibly not have been prevented at all. But the knowledge itself [about her husband’s carrier status] was already important for us. (Interview by Stefan Reinsch, 4 June 2021)

Similarly, Sabine recalled how she feld when during a checkup her doctor discovered a black spot in her uterus and suspected a pregnancy:

I was so excited that I couldn’t even pee. In the end, we did the pregnancy test with my blood, which is more reliable anyway, but I had to wait until Friday to pick it up. I was really confused and also, Dustin wasn’t in town. Terrible! In the end I wasn’t pregnant. There was also some disappointment. Because that would have comfortably settled the matter. (Sabine’s diary, 1 August, 2019)

As these quotes show, even prospective parents who were in favor of testing and did not want to bring an affected child into the world, did not per se reject such children but, rather, wanted to protect themselves. This also becomes obvious in Anna’s and Sabine’s readiness to keep the child when a spontaneous pregnancy occurred (in Anna’s case) or was suspected (Sabine).

Discussion

In this article, we have shown that the decision to genetically test carriers, embryos or fetuses preconception, pre-implantation, or prenatally, is embedded into a highly complex setting of potential parents’ own biographies and strongly influenced by their own health und functionality in everyday life, especially when they themselves are affected by a chronic condition they may transfer to their children. The simplistic antagonism that dominates public discourse and debates on these genetic testing technologies in Germany thus lacks depth and complexity. By taking the experiential and embodied knowledge of chronically ill persons into account, we have shown that the decision to “screen out” an affected embryo or fetus should not always be understood as a decision against a child. Rather, informed by their own experiences with their disease, some of our interviewees saw it as their parental and genetic responsibility to not bring a child into the world that would invariably have to live with and possibly suffer due to this disease as well. This corresponds to research on reproductive decision-making among persons with a heritable cancer syndrome in Australia (Forbes Shepherd et al. 2022). However, this is a view that is rarely discussed in the German context as it may easily be linked to the question of which lives are regarded worth living and the memory of the horrendous practice of Nazi euthanasia.

Another important argument for testing focused more on sick parents' own health, thereby making the decision to test not one against the child but one for one’s own wellbeing and quality of life. This is in line with previous studies which reported negative effects of children’s chronic illness on the health-related quality of life of their parents, an effect that was even stronger when parents were chronically ill themselves (Hatzmann et al. 2009). While one of the main criticisms of genetic testing in Germany sees this as a structural issue – which in many regards it certainly is – our interviewees did not see this as the result of a lack of support in an ableist society, but instead focused on the basic reality of everyday life with a chronic illness, such as several hour-long daily therapies. Anticipating the caregiver burden of caring for a child with a chronic illness on top of their own therapy, testing became an integral element of “being realistic” about their abilities and resources regarding parenting.

The parents we interviewed also reflected on their own childhoods and recognized that prioritizing their own wellbeing was crucial in securing a healthy future for themselves and their potential children. At the same time, the chronically ill persons we interviewed maintained that they viewed their own lives as worth living and were happy to be alive; however, if given the choice, there was a clear preference for having children not affected by their condition, precisely because of their experiential knowledge regarding everyday life with their disease. However, some of our research participants were relieved when they did not have to make a decision as a result of testing – similar to the parents in Kelly’s study (2009), they welcomed the privilege of being able to “chose not to choose” when they unexpectedly became pregnant or suspected to be. This in a way confirmed their claims of not deciding against a child.

Although we agree that genetic testing in the context of reproductive decision-making is a profoundly moral practice that not only poses significant challenges for people navigating these situations but also involves a considerable risk of discrimination and ableism, our study shows that testing for heritable genetic illness not necessarily implies that parents follow an ableist ideology that rejects chronically ill or disabled children. We suggest that current debates on carrier, preimplantation, and prenatal testing, especially in a country like Germany where the debate is heavily influenced by an antagonistic view of ablebodied parents versus disabled or chronically ill children, would greatly benefit from taking these nuances and experiences into account.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported by a financial grant from Mukoviszidose Institut gGmbH, Bonn, the research and development arm of the German Cystic Fibrosis Association Mukoviszidose e.V. (Grant Number 2305).

Notes

1 We are highly aware of the fact that not only cis women can be pregnant. However, all of our interviewees identified as cisgender. Therefore, in the analysis of our interviews, we mostly use the terms “woman” and “mother” when talking about pregnant persons and “men” for our male identifying interviewees.

2 Netzwerk gegen Selektion durch Pränataldiagnostik

3 https://www.netzwerk-praenataldiagnostik.de/web_data/pdf/Praenataldiagnostik/2011_Stellungnahme_PID.pdf (accessed 9 November 2023).

4 This view also becomes apparent in the recommendation that pregnant women who have received a positive NIPT result “should be put in contact with associations or families who have a child living with a trisomy” (Perrot and Horn 2022, 678).

5 For the current list of conditions licences for PGT in the UK see https://www.hfea.gov.uk/treatments/embryo-testing-and-treatments-for-disease/approved-pgt-m-and-ptt-conditions/ (accessed 31 July 2023).

6 https://www.marfan.de/krankheit/infos-allgemein/das-marfansyndrom.html, accessed 28 July 2023

7 In order to protect our research participants' identities, we anonymized their names and other identifying information. Two participants, Stephan and Alexandra, however, wished to be referred to by their real names.