In this section, we present two concerns highlighted by HCPs in France, England and Germany regarding women or prospective parents’ decision-making about TOP following a positive NIPT result. Through our interviews, HCPs explored key fears and concerns arising from their own experience in clinical practice, the reported experiences of colleagues, and broader social and political discourse. HCPs raised two key concerns: that women may make decisions without a confirmed diagnosis and that they may have a biased perception of the genetic condition screened for, such as DS.
Critically, the data we present here should not necessarily be interpreted as evidence supporting their fears and concerns. Rather, our examination is of the nature and focus of their perceptions.
Fears of hasty decisions around TOP
In each of the three countries, HCPs expressed fears that women and prospective parents may make hasty or “panic”-driven decisions about TOP based solely on NIPT results, without confirming any findings through diagnostic testing (CVS and amniocentesis are carried out from 11 to 15 weeks respectively). This could lead to women making an insufficiently informed or uninformed decision about the course of their pregnancy. However, no HCPs detailed specific instances where this had occurred in their own clinical practice. Some made general references or focused on it as a possibility, or how this fear influenced their counselling of patients; many also described how they had heard anecdotal or second-hand reports of this phenomenon occurring (e.g. from colleagues).
During the interviews, HCPs frequently referenced the gestational timing of NIPT, and how this could allow women or prospective parents to opt straight for a TOP upon request in many jurisdictions. This was overwhelmingly framed as a negative potential choice and something that must be avoided. Many indicated that one aspect of their role as clinicians was to prevent this occurring, by effective counselling of patients.
Concerns about unconfirmed diagnoses and the extension of the legal limit for ‘voluntary’ TOP in France
Some French HCPs [4] described difficulties in convincing women of the importance of confirming a NIPT result through an invasive diagnostic procedure (CVS or amniocentesis). They expressed concerns that some women would like to have a TOP based on an initial NIPT result rather than having to wait for the diagnostic test.
‘(…) what is sometimes complicated to pass on to them is that this additional diagnostic stage is necessary (…) i.e. there are some who would like to terminate their pregnancy straight away on the basis of the first result and this is sometimes complicated to manage’ [French HCP 17_ Professor in Genetics].
A number of French participants referred to the extension of the legal limit for TOP upon request (‘voluntary’ TOP) – from 12 to 14 weeks of pregnancy (16 weeks after the last menstrual period). They raised the possibility that this could broaden the period for women to seek TOP immediately after NIPT. At the time of the interviews, HCPs were aware of the plan to extend the legal limit on TOP upon request.
‘(…) on serum markers or NIPT, if patients manage to have them before 14 weeks, no one can prevent them from going for ‘voluntary’ TOP. Nobody can stop them.’ [French HCP 12_ Midwife].
Another participant, a French gynaecologist, described fears that some women (and couples) may impulsively decide to undergo a TOP before 16 weeks of amenorrhoea, while there is still uncertainty (no diagnostic confirmation) about the significance of the positive result, which is exacerbated in the case of a rarer condition (e.g. rare trisomy, large deletion or duplication) detected by expanded NIPT:
‘Personally, I’m having great difficulty with this extension of the time limit, because a lot of tests [expanded NIPT] are carried out during this period, (…). And where women and couples panic and can then choose to erase everything and start again.’ [French HCP 11_Obstetrician-gynaecologist].
Respondents described the challenges involved in examining requests for TOP on ‘medical’ grounds for rarer chromosomal abnormalities (rare autosomal trisomies, large deletions and duplications) in terms of the complexity of their interpretation (e.g. varying degrees of phenotypic expression, lower accuracy).
‘After that, there is also the whole question of, (…), there are chromosomal abnormalities [beyond the three common trisomies] that are not always going to be serious, not always admissible for a TOP, (…) and so, we expect to be faced with ethical difficulties’. [French HCP 8_Geneticist]
This interviewee underlines the dilemmas faced by HCPs when judging the eligibility of TOPs for rarer (and potentially less serious) chromosomal abnormalities.
Concerns about unconfirmed diagnoses and lack of follow up in the private sector in England
The English interviews focused on concerns about provision of NIPT in the private sector, and the quality of test provision and clinical counselling. Some interviewees [8] described cases (whether of their own or colleagues) of women who had carried out NIPT in the private sector and then turned to the public sector (NHS) for more genetic advice on the chromosomal abnormalities screened beyond the three trisomies (T21, T13 and T18).
‘Colleagues of mine (…) have had similar issues where actually NIPT result [in the private sector] has been wrong and the couple have, through the NHS, after they’ve been given a result, then had an invasive test. (…), and in most situations where they might be having a termination based on that result. That’s obviously going to be vital that that result has been confirmed. Because they could be making a decision based on an incorrect result.’ [Eng HCP 19_Genetic Counsellor].
In addition, this English nurse describes situations where she believes that women would terminate their pregnancy without diagnosis:
‘Sadly, I’ve heard of cases of terminations just on NIPT without any confirmation. I don’t think I’ll be alone there and that seems wrong.’ [Eng HCP 3_Nurse].
The following interview highlights the perception of a lack of follow-up in the private sector after the return of the screening results, and the risk of making a decision without receiving proper counselling and nuanced information about the detected condition. Some English HCPs [9] also described concerns about the uncertainty of the variability (either as penetrance or expressivity) of other conditions that may be offered by the private sector.
(…) there’s this bigger push… some of the private NIPT companies are now looking at things like 22q deletion and other conditions. I think we do need to be careful as to how far we go with offering tests, particularly for very variable conditions that lots of people with them have a very good quality of life, (…) And there are still people who say: ‘Well, if my baby’s got a genetic condition, I want a termination,’ but of course there are thousands of genetic conditions and some are truly awful and some are much milder, and it’s very difficult. [Eng HCP 010_Geneticist]
English HCPs in our study were concerned that the provision of NIPT in the private sector may lead women to consider TOP based on insufficient clinical knowledge of the conditions being screened for (e.g. phenotype at birth), which could potentially result in TOP for less serious or non-serious conditions.
Concerns about early TOP without diagnosis due to gestational restrictions in Germany
The German interviewees emphasised the concern that women might decide to terminate their pregnancy early – before 12 weeks – having received neither genetic counselling nor a diagnostic confirmation. This reflects in particular the time pressure faced by women in Germany and the concern that women will make early TOP decisions due to the difficulty of accessing TOP in Germany after 12 weeks.
‘(…) I’ve also heard this from colleagues – that women use the test (…) in the very early weeks of pregnancy without having much knowledge about it [NIPT]. And that possibly before the 12th week of pregnancy in Germany, an abortion is made (…).’ [Ger HCP 3_ Pregnancy/prenatal counsellor].
(…) it is actually the case that if the women really want to have an abortion after this [NIPT] finding and then without medical indication, just get [the abortion] based on NIPT without further [diagnostic tests] (…). [Ger HCP 11_ Gynaecologist]
In the following two interviews, German HCPs place particular emphasis on the risk of making an uninformed decision to terminate the pregnancy of a ‘healthy child’ without confirmatory diagnosis:
‘But again, if a woman decides to have an abortion based on a positive NIPT, then there’s a 50% chance that she’ll abort a healthy child if she’s under 30, unless the child has something what is seen on ultrasound. But if I don’t do an ultrasound, I can’t tell.’ [Ger HCP 21_ Doctor-prenatal medicine specialist].
‘The job [of counselling] is for them to make it clear that such a result is not 100%, that it is not a diagnosis in that sense and that you are taking the risk of possibly terminating the pregnancy of a healthy child, you see?’ [Ger HCP 16_ Obstetrician-gynaecologist].
German HCPs stressed the importance of counselling to avoid terminating the pregnancy of a ‘healthy child’.
Across the three countries, interviews with HCPs highlighted a range of concerns about women taking insufficient time for deliberation or making decisions about TOP. They focused on the importance of discussing with women the implications of the condition detected and of confirming a positive NIPT result with further diagnostic testing before considering TOP.
Concerns about media representations and social beliefs relating to DS
Across the three countries, HCPs raised concerns that women or prospective parents may not have an accurate, balanced or realistic picture of the impact of DS on life – i.e. how people and their families can actually live with disability – and that this could have an impact on informed decision-making. In France and England, HCPs expressed reservations about media representations of disabilities such as DS, which focused only on those who were independent, and doing well. They felt these representations did not sufficiently reflect the full range of scenarios, such as the medical complexity of the condition or potential challenges that families might face. In contrast, in Germany, when discussing the need for a balanced and realistic representation of DS in counselling, HCPs focused much more on avoiding overly negative portrayals of quality of life. They emphasised the importance of communicating to patients the rich and full life that children with disabilities such as DS can lead.
Concerns about media representations of disability in France and England
HCPs in France and England made references to representations of DS in the media. They felt that these did not sufficiently reflect medical aspects of a condition like DS (e.g. cardiac problems, likelihood of developing certain health conditions), which was important for prospective parents to know in order to make informed decisions. They described how these media representations might lead to ‘false perceptions’, and/or how they might not validate the realities of parents with children who were not independent or ‘doing well’.
A few French HCPs referred to the television campaign, ‘Dear Future Mom’, which was broadcast across Europe on World Down Syndrome Day (YouTube, 21 March 2014). The clip was produced by 15 European Down’s syndrome associations. It features 15 children of different nationalities describing their lives with DS, and in particular their abilities, which are portrayed as similar to those of other children.
‘There’s been a kind of [television] campaign where you see more children with DS on television, with children who are relatively independent, who seem to be doing well in the end in well-off families. (…) Afterwards, we talked mainly about children with DS who were doing well, in other words who were independent. We didn’t talk about those with heart defects. We didn’t talk about those who never spoke and who had severe autistic syndromes.’ [French HCP 12_ Midwife].
In England, the BBC documentary, ‘A World Without Down’s Syndrome?’ [38] presented by Sally Phillips, in October 2016, was mentioned multiple times by English HCPs. Sally Phillips is an English actress who has a son with DS. She made the documentary to portray the positive aspects of having a child with DS, and critique the possible implementation of NIPT in the NHS and the risk of it ‘eradicating’ the DS population.
‘There’s sometimes quite a false perception in that you’ve got somebody who’s an actress [Sally Phillips] who can really shout loudly: ‘look at me and look at what my child’s achieved!’, but there was nobody there [in the meeting] that had a child with DS that had really struggled with lots of health problems.’ [Eng HCP 6_Genetic Counsellor].
HCPs in France and England focused on concerns that women may base their decisions on positive media or popular views of DS that may be a ‘false perception’ of what it is like to live with the condition. They framed this primarily in terms of lack of emphasis on medical aspects of the condition (e.g. some level of learning disability, a heart condition in about half cases, and other health conditions that are more common in people with DS), and that these portrayals of DS risk creating a sense of guilt among women considering having a TOP. A focus on the medical aspects of disability in prenatal counselling has been subject to significant critique in the bioethics and disability literature [39, 40]. This includes descriptions of conditions such as DS primarily in terms of medical symptoms and framing it in terms of deficit, and how this can impact the choices made [40]. However, media representations of disability that aim to be positive and counter medicalised and hurtful narratives also risk obscuring lived realities and stereotyping people with DS, which includes difficulties in access to services and resources [41].
Countering negative beliefs or perceptions of the ‘worst-case scenario’ in Germany
In comparison to the French or English interviewees, German HCPs stressed fears that women decide to terminate their pregnancy based on overly negative perception of disability, and a lack of understanding of the quality of life that a child with DS might have. German HCPs described how some women imagine the ‘worst-case disability’ [Ger HCP 3_Pregnancy/prenatal counsellor] when they receive the result indicating a fetal condition, which may be because they do not know anyone living with this condition in their social circle or environment. While French and English HCPs made reference to specific media representations, German HCPs focused more on general social perceptions of disability, lack of understanding of genetic conditions, and the unnecessary equation of disability with ‘suffering’.
‘Then there are also a lot of ideas that disability means suffering. (…) And I don’t think they have any idea how satisfied people with DS can be with life’. [Ger HCP 7_ Pregnancy/prenatal counsellor, systemic therapist]
‘(…) DS in its psychological and physical developmental variants does not necessarily have to be equated with a serious illness. The prenatal diagnosis results in a possibly insufficient knowledge about the condition or the clinical picture and the consequences in a rapid TOP.’ [Ger HCP 18_Doctor-prenatal medicine specialist].
German HCPs expressed concern that women may decide to terminate a pregnancy although it is difficult to determine how severely a child might be affected by DS.
‘DS, the spectrum is extremely large, without us being able to say in advance. That only becomes apparent after the birth and there are certainly a number of people with DS working here at the clinic, in the emergency room as nurses, in the kitchen. They also live independently. They come here to the clinic on their own by tram and can lead a very contented, self-determined life.’ [Ger HCP 27_ Doctor-prenatal medicine specialist].
Although they acknowledge the variable expressivity of the condition, several HCPs interviewed particularly emphasised the fact that some people with DS can live independent lives.
‘So, if you knew now that all people with DS have a slight mental impairment, but are otherwise happy people and can eventually live relatively independently and do everything (…)’ [Ger HCP 10_Doctor-prenatal medicine specialist].
The German interviewees mentioned the importance of offering genetic counselling sessions so that women have a more ‘realistic’ view of a disability such as DS and the possible resources and support for raising a child with a disability.
To summarise, French and English HCPs in this study were concerned about women being influenced by overly positive media representations in their decisions about the course of their pregnancy. German HCPs, on the other hand, feared that women have an overly negative and biased view of life with a condition such as DS. They tended to emphasise the unknown severity or variable expressivity of the disease, as well as the potential independence and happiness of people living with it.
link
