Abstract
Non-invasive prenatal testing (NIPT) can not only accurately detect early in pregnancy the presence of chromosomal abnormalities but also fetal sex. However, whether fetal sex should be reported after performing NIPT is ethically contentious. In Belgium, NIPT is practically fully reimbursed and offered to all pregnant women as a first-tier screening. In practice, fetal sex is reported upon request of the expectant parents; however, this is not stipulated in guidelines. As more countries are offering NIPT and looking to implement it in public healthcare, challenges and insights of healthcare professionals working in Belgium can be of value for others. We assessed healthcare professionals’ experiences with and perspectives on sex determination and reporting following NIPT in Belgium by conducting a semi-structured interview study. We interviewed 30 professionals involved in prenatal screening. While overall healthcare professionals did not consider reporting fetal sex to be an issue if the expectant parents want to know, some consider the reporting of a non-medical trait like fetal sex problematic when it is reimbursed or if it could lead to sex-selective termination of pregnancy. Moreover, the strong desire of expectant parents to know fetal sex risks compromising informed decision-making about NIPT. In this way, fetal sex may distract from the primary aim of NIPT as a test for medical conditions. Improving pre-test counseling both in terms of quality and availability may help overcome some of these issues.
Subject terms: Ethics, Medical ethics
Introduction
Finding out the fetal sex can be very exciting for expectant parents. Trends such as gender reveal parties illustrate this excitement [1]. Fetal sex has been reported as information that can make pregnancy feel real to expectant parents and facilitate early bonding. Knowing fetal sex may impact the pregnancy experience, maternal expectations, and the way expectant parents interact with and think about the fetus as a future child [2, 3].
Although fetal sex determination has been offered non-invasively by ultrasound for decades, non-invasive prenatal testing (NIPT) can determine fetal chromosomal sex (hereafter fetal sex) earlier and more accurately [4, 5]. However, it is unclear from guidelines whether fetal sex should fall within the scope of NIPT. A dominant view holds that the purpose of NIPT should be to promote reproductive autonomy by providing (medical) information which expectant parents may use in their decision-making around pregnancy and parenting [6–9]. Reproductive autonomy can be understood as respecting individuals’ reproductive freedoms, prior to and beyond conception, by enabling and stimulating meaningful and true informed decision-making consistent with their values, neither inhibiting nor imposing access to services or treatments [10]. Although fetal sex determination can be considered medically relevant in the context of sex chromosome aneuploidies and sex-linked conditions, fetal sex is in itself generally considered a non-medical trait. Hence, it is debatable whether fetal sex should be made available with NIPT to expectant parents through a public healthcare system.
Reporting fetal sex has raised ethical concerns, especially when this information can lead to sex-selective terminations of pregnancy (TOP). Arguments against sex-selective TOP include harms to the future child because of gender expectations and sex discrimination [11]. Ethicists also express concern that sex and gender are often implicitly equated by fetal sex determination.1 [12] However, arguments questioning the moral controversy about fetal sex determination and sex-selective TOP hold that it is a parent’s prerogative to choose non-medically relevant traits like fetal sex [13].
In Belgium, NIPT is offered to all expectant parents as a first-tier screening test and is virtually fully reimbursed to all pregnant women with Belgian health insurance [14]. While NIPT is stated to be primarily aimed at screening for trisomy 21, 18, and 13, most NIPT-providers report fetal sex as a ‘secondary’ finding upon request of the expectant parents. However, a national framework regarding fetal sex determination and reporting is missing. The views of healthcare professionals (HCPs) in this context can provide valuable insight into practices around fetal sex determination in Belgium and how to improve clinical practice. We interviewed a range of HCPs involved in NIPT provision, aiming to gain insight into their experiences with and perspectives on early fetal sex determination with NIPT and to gain a better understanding of the ethics of it. As more countries are offering NIPT and looking to implement this test in public healthcare, insights and struggles of HCPs working in Belgium, can be valuable for other contexts and support guidelines.
Materials and methods2
Setting
In Belgium, NIPT is offered to all expectant parents with Belgian health insurance at a marginal out-of-pocket cost of €8,68. Test uptake is very high with around 91% in 2022, there is no data on why women decline NIPT. The uptake was calculated based on the number of reimbursed tests from the National Institute for Health and Disability Insurance as reported by Duquenne et al. 2022 [15]. NIPT is reimbursed from the 12th week of pregnancy. TOP not requiring medical justification in Belgium is allowed until the end of the 12th week. There is also the legal provision of a mandatory 6-day waiting period, prior to which no HCP can perform the abortion unless for urgent medical indications. However, there is an ongoing debate about extending this period and shortening the waiting period, which might affect HCPs views on early fetal sex determination. The sex chromosomes are routinely analyzed and fetal sex is reported upon request of the pregnant woman (and partner). Even if expectant parents do not wish to know fetal sex, the sex chromosomes are analyzed, but the result about fetal sex is not given (this is not necessarily the case with targeted NIPT). While fetal sex is generally reported, not all providers report sex chromosome aneuploidies (SCAs). In Belgium, low-risk pregnancies are monitored with ultrasounds at around 12, 20, and 30 weeks at a reimbursed cost. Fetal sex is not typically checked during the 12-week ultrasound due to its lower accuracy at that time and the possibility to determine it with NIPT. Fetal sex is checked at the 20-week ultrasound.
Currently, the HCP offering NIPT is expected to counsel for NIPT [16]. Additionally, clinical geneticists are often involved with post-test counseling, for example in case of rare chromosomal conditions. However, how the counseling is organized is provider-dependent. For instance, in some contexts, the gynecologist does the post-test counseling. Moreover, training in NIPT-counseling is lacking, subsequently counseling quality is varying. Fetal sex is not mentioned in the Belgian guideline managing additional findings with NIPT [17].
Participants
HCPs participating in the study work with NIPT in a clinical, counseling, laboratory, or research context, and/or treat patients with a genetic condition. We included participants representing a broad range of specialties, including gynecologists, midwives, geneticists, laboratory specialists, counselors and pediatricians. Participants were purposively recruited via email or phone based on publicly available contact details on websites of professional associations, hospitals and other institutions; the network of involved researchers; and snowball sampling. Participants were selected based on their specialization and expertize and required to have active professional involvement with NIPT or patients with a genetic condition in a clinical context and/or research context. Some HCPs had no direct contact with expectant parents, like laboratory specialists. Of the ones who did, some saw them before or until 12 weeks in pre-test counseling, some during the NIPT-consultation, others during post-test counseling. Participants were professionally active in the regions of Flanders, Wallonia, and Brussels. We contacted 44 HCPs of whom 33 participated.
Data collection
We conducted semi-structured interviews with 33 HCPs in Belgium between November 2022 and May 2023. We excluded three from analysis because fetal sex was not addressed in one interview and two other participants wished to withdraw. Table 1 shows participants’ demographic characteristics. Belgium has three official languages. Interviews were conducted in Dutch or English. While non-Dutch speakers were mostly interviewed in English, the interviewer assured participants they could switch to French whenever they wanted to. Interviews were conducted by Z.C. and E.V. Due to the COVID-19 pandemic, interviews took place by video call. Three interviews were conducted via telephone for technical or practical reasons. The interviews lasted between 40 and 120 min. The interview guide was compiled based on the literature and discussions with the research team. All interviews were recorded with permission of the participants, transcribed verbatim, and pseudonymized.
Table 1.
Demographic characteristic of participants.
| Characteristics | Participants n = 30 |
|---|---|
| Age | |
| 30–39 | 6 |
| 40–49 | 12 |
| 50–59 | 9 |
| 60+ | 3 |
| Age (mean) | 47 |
| Gender | |
| Male | 8 |
| Female | 21 |
| Did not disclose | 1 |
| Occupation | |
| Genetic counselor | 2 |
| Psychosocial counselor | 2 |
| Clinical geneticist | 9 |
| Midwife | 3 |
| Obstetrician/Gynecologist | 6 |
| Laboratory specialist | 7 |
| Pediatric endocrinologist | 1 |
| Work experience in relevant field (mean in years) | 22 |
| Type of institution | |
| University/academic hospital | 20 |
| Peripheral/regional hospital | 8 |
| Non-profit organization | 1 |
| Abortion center | 1 |
| Region | |
| Flanders | 21 |
| Wallonia | 5 |
| Brussels | 4 |
Data analysis
The pseudonymized transcripts were analyzed using reflexive thematic analysis [18]. NVivo12 software was used to aid data analysis. The first coding phase was aimed at finding information relevant to the research objectives. These codes were clustered according to similarities and differences as well as experiences (what is the case), and normative points of view (what should or should not be the case) according to the HCPs in our sample. In a third phase, we divided the codes into three main themes which were reviewed, refined, and redefined where necessary until consensus was reached.
Results
HCPs’ perspectives on fetal sex were grouped according to three main themes: (1) renegotiating reproductive autonomy? (2) negotiating divergent expectations about NIPT, and (3) navigating early fetal sex determination with a publicly reimbursed NIPT.
Renegotiating reproductive autonomy?
The scope of HCPs in expectant parents’ choices
Many HCPs perceived that most expectant parents want to learn fetal sex as early as possible and felt that this was ethically acceptable. These HCPs generally questioned their involvement or role in this choice, suggesting it is for expectant parents to decide if they want to obtain this information (exemplar quote, Table 2; Q01). This view frames the choice of obtaining this information through the lens of women’s choice or reproductive autonomy. If expectant parents want to know, this is a good enough reason to report it (Q02). Some HCPs also felt that if they see fetal sex by analyzing the sex chromosomes, they have to report it because it is not right to withhold the information once obtained (Q03). Moreover, they did not consider it their responsibility what expectant parents might do with that information (Q04).
Table 2.
Themes, subthemes, and exemplar quotes.
| Main theme | Subtheme | Exemplar quote | # |
|---|---|---|---|
| (1) Renegotiating reproductive autonomy? | 1.1 The scope of HCPs in expectant parents’ choices | “Who am I to say something about this?” (HCP01—laboratory specialist) | Q01 |
| “Reality shows that almost everyone wants to know fetal sex. Exceptionally, people say no we don’t want to know.” (HCP21—genetic counselor) | Q02 | ||
| “It [fetal sex] is just something you see, so it seems logical to me if you have that knowledge that you share that knowledge with the parents-to-be.” (HPC29—clinical geneticist) | Q03 | ||
| “I think our job is mainly to inform people…and I’m going to try not to judge, and I think if, for example, they really want to have an abortion because of fetal sex, then I’m going to give them information…but I’m going to try not to judge. (HCP07—midwife)” | Q04 | ||
| “yes, this [expecting to learn fetal from NIPT] is not rational, this is not science. But it’s human beings. This is subjective and yes, so we can’t make a decision [to stop reporting fetal sex] that will not be understood … they will find their way to find a private company.” (HCP20—genetic counselor and clinical geneticist) | Q05 | ||
| 1.2 Sex-selective TOP is ethically contentious | “I’m pro-choice, people should be able to choose, but not based on fetal sex because then you really start leaning very close to selection for blonde hair, blue eyes—that’s not where we are now, but I think fetal sex is already the beginning of such a kind of selection” (HCP33—midwife) | Q06 | |
| “I’m not really OK with this[sex selective TOP], this is why I don’t think we should choose the sex of our babies….I think it’s important to choose, may be if you can avoid to have a baby with a severe medical condition, but I don’t think you get to choose the sex” (HCP13—clinical geneticist) | Q07 | ||
| “I don’t think that [knowing fetal sex]is relevant in a pregnancy, what is the added value of knowing fetal sex in advance?” (HCP06—pediatric endocrinologist) | Q08 | ||
| “For me, a fetus is viable from 24 weeks. So, every woman can decide about her body until then. I really think like why is that [TOP] not allowed, why do you have to undergo things as a woman that you do not want? Is a child viable?—that is another discussion because then it is a living child. But until then: right to self-determination.” (HPC14—obstetrician/gynecologist) | Q09 | ||
| “If it’s an important thing for whatever reasons, we are not going to say that is not a good reason, you have to stay pregnant.” (HCP24—psychosocial counselor) | Q10 | ||
| “if someone remains pregnant with a child and the sex is not what that woman or couple had in mind, then that child may bear the consequences of this for the rest of his life.” (HCP24—psychosocial counselor) | Q11 | ||
| (2) Negotiating divergent expectations about NIPT | 2.1 Fetal sex distracts from the primary aim of NIPT | “The primary aim [of NIPT] is still picking up the most common trisomies in the fetus…For a lot of people it seems important that they can find out fetal sex because that can be done earlier than normally with the ultrasound. For us, that’s not the primary goal but we do notice a lot of questions about that when people call to ask about the result. (HCP26—laboratory specialist) | Q12 |
| “I hope that they don’t do NIPT to know the sex of the fetus, but to know if there is a trisomy or another rearrangement…But normally, NIPT is there to give an answer about a pathogenic rearrangement, but not really about sex of the fetus. But it’s possible, so we offer this comfort to the mother to know if it’s a boy or it’s a girl.” (HCP31—laboratory specialist) | Q13 | ||
| “A lot of women do it [NIPT] only for the sex because it is important for them to know…sometimes they didn’t anticipate that we can find something else” (HCP15—clinical geneticist) | Q14 | ||
| “We would definitely perform a lot less NIPTs if [fetal sex] wasn’t included and if people didn’t get reimbursed for NIPT plus fetal sex” (HCP05—obstetrician/gynecologist) | Q15 | ||
| “If you don’t do it then it will become clear with an ultrasound, I think it should be emphasized more that people also have the right not to know.” (HCP06—pediatric endocrinologist) | Q16 | ||
| 2.2 Fetal sex reporting challenges the boundaries between personal and professional ethics | “I say ‘as an additionality you can know the sex…but if that’s why you want to do that, then you shouldn’t because that’s not a good reason,’ then I say, ‘what’s more important?: The gender or if the chromosomes are okay?’…I think it’s our job to make it clear that [fetal sex] is not the core business of NIPT.” (HCP33—midwife) | Q17 | |
| “As a doctor I have sworn an oath not to do any harm and so participating in that [sex selective TOP] is directly harming the child. (HCP30—clinical geneticist) | Q18 | ||
| (3) Navigating early fetal sex determination with a publicly reimbursed NIPT | 3.1 Fetal sex as a luxury in the context of public funding | “It [fetal sex] shouldn’t be reimbursed of course. If you perform NIPT, and we actually have this information…we could say: ‘if you want to know then you pay extra,’ because if there is no medical relevance, it actually is a luxurious bonus.” (HCP01—laboratory specialist) | Q19 |
| “…‘if you want to know fetal sex with NIPT, it’s 5 euros’—it’s an extra cost. I think that it must be possible…I also think that people will really start to think more clearly and more deeply about the NIPT.” (HCP10—obstetrician/gynecologist) | Q20 | ||
| “If they would only do it to know fetal sex and they don’t want to know about genetics then I think you have an alternative that is cheaper and then society should not be charged with that. (HCP16—obstetrician/gynecologist) | Q21 | ||
| 3.2 Concerns around additional fees for fetal sex information | “[Charging for fetal sex] is extremizing the fee-for-service, I don’t think I would support that…because it’s basically exploiting data that’s out there. It’s almost like selling data somewhere that you obtained during a medical examination, a medical analysis.” (HCP30—clinical geneticist) | Q22 | |
| “[paying extra for fetal sex] will only create more administration…and will also suggest that…the whole test is something you have to pay yourself which I absolutely do not want because I think it is far too important that aneuploidies can be detected early.” (HCP28—clinical geneticists) | Q23 | ||
| “Making people pay for fetal sex defeats the purpose of population screening. It’s a population screening so it’s ‘take it or leave it’…If you do population screening then it has to be reimbursed in its totality, and you should not have to pay extra.” (HCP02—clinical geneticist) | Q24 | ||
| “I think [paying for fetal sex determination] is justified…but I don’t think that it is permissible then to say…if people pay for it themselves, then it is possible…That idea ignores the ethical question because you put parents in the position that they are happy or not with the arrival of their child, depending on ‘is it a boy or a girl,’ in what color should I paint the room?…I don’t think society should pay for that, I also don’t think that the fact that you have to pay for it yourself suddenly justifies that you should do it.” (HCP06—pediatric endocrinologist) | Q25 | ||
| “I don’t think that the test should be used for that, it is useful because people like to be informed in advance, and it is a reliable method for determining sex, but when it comes to selection, then I don’t think we [society] are allowed to participate in it with NIPT.” (HCP26—laboratory specialist) | Q26 |
Several HCPs pondered that it would not be popular to stop reporting fetal sex with NIPT. HCPs were generally pessimistic about the feasibility to stop reporting fetal sex because women expect to learn fetal sex after NIPT, and there is no central national authority expressing itself on the scope of NIPT. Nor did they agree whether it is desirable to stop reporting fetal sex, for instance because if the genetic centers would decide to stop reporting fetal sex, HCPs affiliated to the genetic centers worried that they would lose patients to commercial NIPT providers (Q05). HCPs noted that if expectant parents want to know, fetal sex is usually reported; but HCPs disagreed under what conditions or to what extent this autonomy should be granted. For instance, in light of the possible extension for non-medical abortions from 12 to 18 weeks, as is currently being debated in Belgium, some HCPs changed their view about the acceptability to report fetal sex after NIPT because, they felt, it might facilitate sex selective TOP. However, one HCP felt that the indication for TOP should be reconsidered rather than the termination period.
Some HCPs felt that they had a right to withhold information, due to the possible consequences of fetal sex determination. The main reason to restrict parent’s choice, HCPs mentioned, was that people might terminate a pregnancy based on ‘undesired’ fetal sex. However, many HCPs did not consider it problematic to report fetal sex because they do not consider this information ‘actionable’ due to the current 12-week limit on TOP for non-medical reasons in Belgium. Nevertheless, to avoid sex-selective TOP, many HCPs considered it defensible to restrict reproductive autonomy.
Sex-selective TOP is ethically contentious
When asked why they were against sex-selective TOP, several HCPs referred to the so-called slippery slope argument. They feared that if fetal sex-selection would be allowed, there would be no reason to ban selection for or against other types of non-medical traits. HCPs against sex-selective TOP often struggled to substantiate their reasoning beyond the moral intuition that selection based on non-medical traits simply is wrong (Q06). Some HCPs who do not consider fetal sex ‘actionable’ information thought that it should only be reported if it is medically relevant, for instance in families with sex-linked conditions. The ‘actionability’ of information about fetal sex was mostly understood in the narrow sense of sex-selective TOP as a consequence of fetal sex determination, rather than other possible actions expectant parents might take (e.g., choosing a name, purchasing products). These HCPs think that the choice for expectant parents to obtain fetal sex information with NIPT should be restricted (Q07).
HCPs were more understanding towards sex-selective TOP for family balancing than cases of gender expectations or cultural reasons, but still mostly not to the extent that the gender preference would justify sex-selective TOP. Not all HCPs understood gender disappointment—where expectant parents are disappointed when the fetal sex does not align with the desired sex gender of their future child—because they did not understand why people have a gender preference. These HCPs felt that fetal sex should be irrelevant, alluding to the distinction between sex and gender (Q08).
However, a few HCPs argued that the right to self-determination and reproductive autonomy encompasses sex-selective TOP. Some HCPs considered a pregnancy with the, for the expectant parents’, undesired fetal sex as an unwanted pregnancy like any other unwanted pregnancy. These HCPs defended sex-selective TOP up until the legal 12-week limit or referred to the right to self-determination until the point of fetal viability, regardless of what reasons women might have for TOP because the right to abortion and women’s right to choose is very important to them. In this line, one HCP stated that no woman should be forced to stay pregnant against her will under any circumstances (Q09; Q10).
A few HCPs also noted that the situation in which a child of the ‘wrong’ sex has to grow up must be considered in the question whether sex-selective abortion might in some cases be justified for the sake of the wellbeing of the child and prevention of suffering (Q11). Moreover, even though it is unknown how many sex-selective TOPs occur in Belgium, HCPs considered sex-selective TOP a marginal phenomenon. HCPs felt that the number of women or couples willing to go through sex-selective TOP in Belgium should not be exaggerated. Some added that if couples decide to do it, it is important to them and difficult to stop them. In this regard, a few HCPs mentioned that not everything can or should be regulated. If people really want something they will find a way. People can for instance go to the Netherlands (neighboring country) for TOP beyond 12 weeks, or people can try sex selection through preimplantation genetic testing in other countries.
Negotiating divergent expectations about NIPT
Fetal sex distracts from the primary aim of NIPT
HCPs repeatedly alluded to the tension of including non-medical information in what they considered to be a test with a medical purpose (Q12). When asked whether fetal sex corresponds to the primary aim of NIPT, HCPs were often inconsistent in their views. While defining NIPT’s primary purpose in medical terms, they also frequently described fetal sex as a ‘fun extra’ for expectant parents, for instance, for a gender reveal party or for the sake of psychological comfort, and did not consider fetal sex determination with NIPT contradictory to or inconsistent with their conception of NIPT’s primary aim (Q13).
Some HCPs perceived that fetal sex determination muddles the primary aim of the test. Because expectant parents really want to know fetal sex, HCPs feared that many are not making informed decisions about NIPT and the possibility of receiving results relating to genetic conditions such as trisomy 21. HCPs believe that fetal sex works as an incentive to opt for NIPT; this means that expectant parents may, therefore, not necessarily appreciate or be prepared for the range of possible results that they could receive (Q14). Several HCPs also perceived a correlation between fetal sex reporting and the high uptake of NIPT in Belgium (Q15). Some HCPs proposed that expectant parents’ right not to know certain information in the context of prenatal screening should be emphasized more in conversations with them in order to help them make decisions and not pressure them to choose NIPT (Q16).
Fetal sex reporting challenges the boundaries between personal and professional ethics
HCPs signaled that a national framework regarding fetal sex determination with NIPT is missing in Belgium. Subsequently, HCPs have more discretion in their counseling approach and some shared coping strategies to harmonize their practice with their personal values, negotiating possible tensions between providing good care and their moral compass. For instance, several HCPs reported that they counseled expectant parents with more directivity, suggesting what actions are good and what reasons are bad. They also considered it their responsibility to do so (Q17). HCPs reported significant discomfort with the practice of sex-selective TOP. In these cases, some HCPs stated they withheld or delayed the information or referred the couple to another HCP because they personally did not agree with expectant parents’ assumed choices. HCPs also referenced their right to conscientious objection should they receive a request from expectant parents for sex-selective TOP (Q18).
Navigating early fetal sex determination with a publicly reimbursed NIPT
Fetal sex as a luxury in the context of public funding
Because fetal sex is considered a non-medical trait, and NIPT in Belgium is reimbursed by public resources, some HCPs wondered whether fetal sex reporting is justifiable as it does not align with the goal with medical screening. Several HCPs felt that NIPT should not be considered as a luxury test because of the public reimbursement. Hence, some HCPs considered that if people want to know fetal sex for non-medical reasons, then they have to pay an additional fee (Q19). One HCP suggested that because of concerns that many expectant parents are not making informed decisions about NIPT in Belgium, asking for an additional fee for fetal sex information might trigger women and their partners to think more carefully about their motivations to choose for NIPT (Q20). If it is just for the sake of learning fetal sex, there are alternative and cheaper tests like ultrasound, society should not have to bear the cost for this, some HCPs noted, hence fetal sex should not be included in the scope of NIPT (Q21). However, most HCPs were against asking people to pay for fetal sex information.
Concerns around additional fees for fetal sex information
HCPs seemed conflicted about the scenario to ask for an additional fee when sex chromosomes are analyzed, and fetal sex is known at no extra cost. To most, this felt wrong. One HCP likened this to the concept of data exploitation and a fee-for-service culture that does not seem to fit a social welfare state like Belgium (Q22).
Another concern that was raised is that making people pay extra for fetal sex could give people the impression that they have to pay for the entire test. This might create an undesirable barrier to choosing NIPT, this HCP felt that it is too important that aneuploidies are detected as early as possible (Q23). A practical concern is that it would add to the administrative burden HCPs and institutions already face. One HCP considered NIPT from the point of view of population screening and that there is generally no space for choice or add-ons (Q24). Another HCP felt that fetal sex determination with NIPT in a public healthcare setting like Belgium is problematic. They considered the debate on who foots the bill irrelevant for the issue they deemed more important. Specifically, they questioned whether this technology should promote gender expectations, reinforce gender stereotypes, or contribute to gender preference. They felt that paying an additional fee for fetal sex information does not change anything morally speaking (Q25). Some HCPs expressed worries about society’s moral complicity in something unethical if fetal sex determination and reporting could lead to sex-selective TOP. They considered that society should not pay for obtaining information that could lead to sex-selective TOP (Q26).
Discussion
This study explored HCPs’ experiences with and perspectives on early fetal sex determination with a publicly reimbursed NIPT, with a focus on the ethics of early fetal sex determination. HCPs expressed a range of views about fetal sex determination and provision of information about fetal sex, spanning both practical and ethical concerns.
HCPs reported that expectant parents generally expect to learn fetal sex from NIPT and were skeptical about the feasibility and desirability to cease reporting fetal sex. Additionally, HCPs cited concerns about possible impacts on informed decision-making around NIPT. Beyond this, HCPs had a range of views on the ethics of fetal sex determination. Many HCPs did not see the harm in it even if it is inconsistent with what they consider to be the aim of NIPT. Reasons against fetal sex determination with NIPT mostly pertained to HCPs moral discomfort with sex-selective TOP and using public resources to obtain non-medical information. Our data suggest that differing interpretations of reproductive autonomy and actionability can impact HCPs’ views on fetal sex determination, affecting their view on what they consider is permissible for expectant parents to do regarding fetal sex information and HCPs approach to counseling.
A key question around NIPT-provision is routinization, which encompasses concerns around informed choice and social pressure to participate in NIPT [19–21]. As highlighted in this study, HCPs express concerns that fetal sex reporting might compromise informed decision-making about NIPT because it works as an incentive to have it. HCPs argued that expectant parents are so motivated to learn the fetal sex, they do not realize the range of possible results they might receive. A recent cross-country comparison survey study found that 59% of pregnant women who chose NIPT in Belgium make an informed choice regarding screening with NIPT. This is relatively low, especially in comparison to 83% of Dutch women. The authors suggest that differences in counseling practices and information provision lie at the root of this difference [22]. Our data suggest that fetal sex being offered to couples in Belgium may be an additional contributing factor. Requesting an additional fee and emphasizing the right not to know during counseling, as opted by some HCPs, might prompt expectant parents to think more carefully and make informed decisions [23].
Furthermore, our findings indicate misunderstandings and disagreements among HCPs about the aim of NIPT and what the extent of permissible reproductive choices should be, and what information can be considered actionable in the context of prenatal testing. These factors affect arguments and views about the ethics of fetal sex determination with NIPT. Belgian HCPs mainly described the primary aim of NIPT in terms of screening for genetic conditions such as trisomy 21. This is understood as a ‘medical’ purpose. By contrast, fetal sex was mainly considered ‘non-medical’. Fetal sex determination was generally framed as a fun ‘bonus’ or comfort to the expectant parents. Hence, HCPs were often inconsistent about whether fetal sex matches their mostly medically framed aim of NIPT. Moreover, this view is inconsistent with Belgian NIPT guidelines on reporting additional findings [17].
Our data point to diverging expectations between clinicians and expectant parents. HCPs explained this divergence as caused by social pressure, personal curiosity, and gender preference, as well as the lack of a national framework of fetal sex determination and reporting in Belgium. The lack of national guidelines regarding the counseling for fetal sex determination can place HCPs in difficult and sometimes morally challenging positions because they have more discretion perhaps leading to an increased sense of perceived responsibility for their own role and choices. This opens the door to directive counseling which might undermine what some would consider the main purpose of the test i.e., providing people with choices they can independently make an informed decision about. HCPs reported directive counseling strategies, and some felt that providing information about fetal sex as a non-medical trait should not be part of their job. Counseling about fetal sex and how to manage the expectations of expectant parents without judgment, should be included when educating NIPT counselors and in the guidelines. This also reflects the gap identified by Steffensen et al. [24] and Stevens et al.’s recent study on the need for more inclusive language in NIPT counseling [25].
We saw HCPs’ responses regarding fetal sex determination, reporting and acting on that information range between liberal and paternalistic. ‘Liberal’ HCPs interpreted reproductive autonomy very broadly to include also non-medically relevant information besides fetal sex, and to act on this information with selective TOP even if they did not agree with it on a personal level. They were willing to accept the consequence of possible sex-selective TOPs because the right to self-determination and interests of the future child trump those personal interests. ‘Paternalistic’ HCPs favored to curb reproductive autonomy and include only medically relevant information with NIPT, i.e., restricting reproductive autonomy to information HCPs deem sufficiently medically relevant to report. This heterogeneity in ideological stances among HCPs, who currently decide the scope of NIPT in Belgium, creates challenges for coherent nation-wide decision-making about NIPT in the Belgian context—which is desirable from an equal access to good care standard.
It is unclear to what extent NIPT leads to sex-selective TOP in Belgium as substantiated data on this are unavailable. The amount of people that will consider sex-selective TOP should not be overestimated [26]. Many people with gender preference will likely continue their pregnancy depending on the context [27]; however, they might need support as continuing a pregnancy does not mean gender preference and subsequent disappointment stops [28]. More research is needed to understand the HCPs’ role and expectant parents’ experience of gender preference and disappointment in settings without widespread preferences for a particular fetal sex.
Limitations
While the results from this study may be informative of practice in Belgium as well as for other contexts, the qualitative approach chosen means that the findings should not be generalized. An additional limitation of this study might be that interviews took place either by phone or online. Some participants shared a room with colleagues or others. At times, this may have caused participants to not express their opinions openly. Because non-Dutch speakers were mainly interviewed in English this may have inhibited some participants to fully express themselves. Due to the diverse sample of HCPs, the questions that were asked or naturally emerged was equally diverse. Hence, not every HCP answered the same questions but focused on their own experiences and lingered on what they felt comfortable with rather than speculate about something they were not well-placed for in their view.
Conclusion
This study reflects HCPs views on early fetal sex determination and reporting with NIPT in Belgium. The key findings from this study are (1) that fetal sex as a non-medically relevant information may distract from the primary ‘medical’ aim of NIPT which may negatively influence informed decision-making about NIPT; (2) divergent expectations and a lack of national guidelines about fetal sex determination and reporting with NIPT may negatively impact the clinical interaction; (3) in a context where public resources are used to reimburse NIPT, the ethical consideration needs to be made whether fetal sex as non-medically relevant information can be justifiably reported. We suggest providing a national counseling framework to standardize counseling to improve pre-test and post-test counseling. NIPT-counseling can be improved by managing expectations about the purpose of NIPT, providing expectant parents with the information they need to make an informed decision, and to help people deliberate if NIPT is in line with their wants and needs, beliefs, and value system to lower the risk of decisional regret.
Data from Belgium is particularly useful because of its first-tier screening model and early adoption of public funding of NIPT, and given the increasing number of countries that are integrating NIPT into their public healthcare systems, these results can inform policy and clinical practice.
Acknowledgements
The authors wish to thank the healthcare professionals who participated in this study for their time and valuable insights. Furthermore, we would like to thank Maria Siermann for helpful feedback, Karuna van der Meij for helpful discussions on the topic, and Lore Lannoo for helpful insights. We would also like to thank the anonymous reviewers for their questions and comments.
Author contributions
Conceptualization: ZC, LH, JRV, PB. Investigation and methodology: ZC, EV. Analysis: ZC, EV, LH. Project administration: ZC. Supervision: LH, JRV, PB. Writing original paper: ZC. Editing and critical revision of paper: ZC, HBS, JRV, LH, PB.
Funding
No grants were received for this study.
Data availability
To protect the privacy of the participants, the data on which this paper was built can not be shared publicly. The data can be shared on reasonable request to the corresponding author.
Competing interests
The authors declare no competing interests.
Ethics approval
This study received ethics approval from the Research Ethics Committee UZ Leuven S65668. All participants signed an informed consent form to participate in this study.
Footnotes
Sex refers to the biological and genetic make-up of the sex chromosomes, gender refers to socio-cultural and psychological identity. Not everyone has the same gender identity as their chromosomal sex. NIPT is regularly wrongly dubbed as the ‘gender test’ in common discourse. This is inaccurate because it detects chromosomal sex, it does not determine gender.
This study is part of a larger interview study, findings about issues with NIPT beyond fetal sex will be addressed in another paper.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
To protect the privacy of the participants, the data on which this paper was built can not be shared publicly. The data can be shared on reasonable request to the corresponding author.