Informed Choice in Prenatal Screening

If the aim of pretest counseling for prenatal aneuploidy screening is that a woman makes an “informed choice” to accept or decline the testing, this well-used phrase warrants scrutiny. While there is not unanimous agreement on a definition of informed choice, the one with most currency in the context of prenatal screening is the description used by Marteau et al. which defines an informed choice as “one that is based on relevant knowledge, consistent with the decision-maker’s values and behaviourally implemented” . There is some discussion on what might constitute “relevant knowledge” but there is broad consensus that information provided to women should include up-to-date, accurate information on the conditions being screened for, what the testing process involves, the potential benefits and harms of the test, and the possible outcomes. There is some evidence that there is greater satisfaction with their screening decision among those women who consider their choice to be informed, but it is more difficult to fully establish whether decisions throughout the screening and diagnostic journey are consistent with values expressed at the outset . Women cannot always know what they will do in real life situations, for example, when surveyed fewer women say they would terminate a pregnancy on the receipt of a diagnosis than do so in reality . This means professionals need to be mindful not to make assumptions about the decisions women may make after screening and to be ready to take a more stepwise approach.

The literature has highlighted how challenging the facilitation of informed choice in prenatal screening is in practice . Some researchers suggest that professionals’ views on women’s information needs can be at odds with what women perceive they need . Others present evidence that women are not being made sufficiently aware of the possible outcomes of screening and the range of decisions that may arise, particularly that they may be confronted with the offer of termination of pregnancy . There is also evidence that women are not always offered accurate balanced information on life with screened for conditions .

The first trimester timing of prescreening decision-making creates another impediment to achieving informed choice. If women are to take up screening at the optimal time of 11–14 gestational weeks, they need to consider their options before this. The first trimester can be a “tumultuous” time for women . They are often adjusting to the reality of impending motherhood; many will be excited and full of hope, others more ambivalent or anxious. Some women may be tentative in these early weeks or worried about miscarriage. All will be subject to distinct physical changes and the emotional fluctuations caused by pregnancy hormones. These factors can impair a woman’s capacity to assimilate information and deliberate on her testing options. At this sensitive time, according to her psychological relationship to the pregnancy and the values she has internalized up to this point, she may find it difficult or impossible to tolerate thoughts of possible fetal anomaly, or as she might see it, something being “wrong” with her baby. It can be equally difficult to contemplate the possibility of confronting a decision about “risky” invasive testing or about the very future of the pregnancy. This is not to suggest that women should not be gently encouraged to reflect on potential outcomes, but staff discussing screening choices need to understand that some women will be unable to do so. Moreover, no amount of high-quality pretest information and counseling can fully prepare a woman for the psychological impact of a “positive” screening result .

Parent Decision-Making—Challenges for Clinicians

Health care professionals face challenges, both systemic and personal, which can affect their ability to effectively support women in their prenatal screening decisions. In many public health systems (and this is certainly the case for the National Health Service in the UK) staffing in antenatal and maternity units is at suboptimal levels . In the UK, midwives have long been tasked with discussing screening options with women and at the time of writing the profession is understaffed by approximately 3500 . Screening is most often discussed at a first visit “booking” appointment with a midwife. This is a consultation that is at best an hour long and covers detailed history taking and many aspects of pregnancy care often including birthing options. As a result, the screening conversation is unlikely to extend much beyond 10 min. The limited availability of ultrasound appointments (another resourcing issue) can mean that women are encouraged to “book in” for a nuchal translucency scan and decide later if they want to proceed . A useful starting point for examining the organizational constraints on women’s screening decision-making in a UK setting is provided by the qualitative study by Ukuhor et al. . They make some recommendations for changes, such as a separate appointment to discuss screening options, which may help address some of the issues but admit that more research is needed. Some maternity units in the UK have scheduled evening group information sessions for parents on screening and anecdotally the response has been positive.

The personal challenges include the complexity of the information professionals are asked to communicate to women. In order to make an informed choice, a woman will need to have at least a basic grasp of the test properties to know what the results might mean to her. Not all professionals feel sufficiently equipped to talk about the technicalities of the screening process such as test sensitivities, specificities, and positive predictive values . Public understanding of relative and absolute risk values is notoriously poor, and professionals are asked to help a woman understand these complicated concepts, when they too may lack confidence . As noted earlier, the woman may still be adjusting to her pregnancy and find it difficult to absorb complex information.

A further personal versus professional challenge for those working in antenatal screening relates to the potential outcome of pregnancy termination. Abortion laws vary across jurisdictions, but most countries allow for termination for fetal anomaly. However, even when working in a setting where abortion is available, some professionals may have personal values that conflict with the provision of abortion in any circumstances, or perhaps in the context of prenatal diagnosis of conditions they deem “less severe.” Others may hold the personal view that it is preferable to avoid the birth of a child who may have a life-limiting or disabling condition . While their professionalism should enable them to put aside their personal values, health care professionals with strong beliefs will need to be vigilant in order that they do not inadvertently exhibit bias.

There are further tensions inherent in maintaining the “nondirective” approach which underpins the aim of fostering women’s autonomous decisions. A nondirective stance has long been seen as the best strategy to deal with the ethical sensitivities and counter the asymmetric power relationship between professional and “patient”; though the approach might also be seen as a tactic to keep at bay the historical specter of eugenics . Furthermore, it can be a way for a health care professional to avoid being implicated in a decision that the woman may come to regret.

Midwives are often on the frontline in discussing a woman’s prenatal screening choices. The ethos of midwifery is to be “with woman” to advocate for her and be by her side through pregnancy and birth. As Farsides et al. note: “Antenatal practitioners often nurture close relationships with the women they care for during the months of pregnancy, and see this as an important and even integral part of their work. These practitioners can feel that the non-directive approach compromises or is incompatible with their concept of a caring practitioner-client relationship” . Moreover, midwives will often care for a diverse population and not all women may value the western model of making autonomous choices in the same way. For example, in Chinese culture more emphasis is attached to “relational autonomy” so while individual autonomy is deemed important, the family can also have a pivotal role in decision-making . A Q-methodology questionnaire study carried out in an area of England with a diverse ethnic population explored attitudes to autonomous informed choice in antenatal screening in a group of 98 women of African, British white, Caribbean, Chinese, and Pakistani origin. Their findings suggested that while most wanted to make their “own” decisions, they also valued the advice of health professionals . In view of this, health professionals may be safest avoiding an over rigid interpretation of nondirective counseling and adapting their decisional support techniques to the needs of the individual woman and ensuring that if she wishes to involve others in her decision-making she is able to do so .

How CELL-FREE DNA NIPT Might Impact on Parent Decision-Making

Having established that effectively supporting parent decisions in the prenatal screening context is complex and challenging, the next question to address is how the introduction of cfDNA NIPT might impact on this process for pregnant women and their partners. cfDNA NIPT has been available in the private sector since 2011 and at the time of writing many public health systems have or are introducing it into their standardized trisomy screening programs (either publicly funded or as an out-of-pocket option) . In many public health systems cfDNA NIPT is not offered as a frontline screen but contingent on a designated risk assessment from conventional screening techniques. For example, from late 2018 in England, all pregnant women whose result from combined or biochemical screening of having a baby with trisomy 21, 18, or 13 assigns a chance higher than 1 in 150 will be given the option of cfDNA NIPT (but can also opt to have invasive diagnostic testing) .

Offering cfDNA NIPT in a contingent way adds another element to pretest counseling. With the introduction of cfDNA NIPT into the pathway, women must be made aware of another possible step in the screening process before they decide to opt in. This potential extra step involved when cfDNA NIPT is offered after initial screening will be significant to some women because of the delay it imposes on the timing of a diagnosis. If she opts for cfDNA NIPT as a second-tier screen she may not receive the result in time to schedule chorionic villus sampling (CVS) if she wishes to have earlier diagnosis. In some instances, clinicians advocate waiting for amniocentesis to avoid the possibility of the CVS replicating a false positive result due to a confined placental mosaicism . Instead of having a confirmed result through CVS before 13 gestational weeks, a woman could find herself at least 16 weeks at the time of diagnosis. Women who know they want to terminate an affected pregnancy and wish to do so surgically may face difficulty accessing the required dilatation and evacuation (D&E) procedure as this is not always as widely available as earlier surgical methods . Moreover, women from certain faith or cultural groups risk being close to or going beyond the gestational age at which termination is officially sanctioned (e.g., many Muslims will only consider termination before they have passed 140 days when it is believed ensoulment occurs) .

The procedure women have to undergo in order to have cfDNA NIPT is very straightforward. It requires a maternal blood draw, often described as a “simple” blood test. The issue of the “routinisation” of blood tests arose when biochemical screening for Down’s syndrome was introduced. Some women reported that they had been unaware of the specific purpose of a blood draw, confused between those carried out for maternal indications (e.g. rhesus factor, infectious diseases) and those for fetal indications . Importantly, this “simple” test will present expectant parents with much more accurate information than conventional screening. Whereas most women who have a positive screening result from combined testing will be found to be false positives, most women who have a positive result from cfDNA NIPT will be true positives. Those imparting the result will need to find the right balance in explaining its implications; this will be different from their previous experience of communicating either screening results that have a much lower sensitivity or conveying the more conclusive nature of results from diagnostic testing.

The impetus behind the widespread introduction of cfDNA NIPT has been that this technology enables a more accurate assessment of the chance of aneuploidy than other screening methods without putting the pregnancy at risk. There would be few that would deny the benefit of reducing the number of invasive diagnostic tests and so the number of associated procedure-related miscarriages. Indeed, the improved sensitivity of cfDNA NIPT potentially expands choice to those women who would value an accurate assessment of the chance of their baby having a trisomy, but have previously been deterred from screening tests because of relatively high false positive rates. Perhaps counterintuitively, the improved accuracy and safety of cfDNA NIPT has the potential to add a layer of difficulty for some women making pretest decisions. The “safety” aspect may make some women reticent to go directly for invasive procedures even when their personal preference is for definitive diagnosis . It is important to acknowledge that the labeling of cell-free DNA-based screening as “NIPT” is not value neutral. The emphasis on “noninvasive” promotes the safety aspect and may make it more difficult for some women to decline the testing or proceed directly to diagnostic testing. In view of this, pretest counseling will need to give time to enabling women to articulate their individual priorities and preferences. Some women may need to be helped to give themselves permission to pursue diagnostic testing if this is right for her in her circumstances. It is equally important that no woman feels pressured to have “NIPT” because it poses no risk when she would prefer not to have a more accurate assessment of aneuploidy in the prenatal period because she does not want to confront further decisions.

There is evidence in the literature that the simplicity and safety of cfDNA NIPT may affect the importance health care providers place on women making fully informed choices to use the technology in contrast to how they might counsel around invasive diagnostic procedures . While it is true that the majority of women who opt for cfDNA NIPT will receive a result telling them their baby is very unlikely to be affected, this should not obscure the fact that a significant minority will face potentially difficult news. It is also important that women are aware of the limitations of cfDNA NIPT and that they could receive a failed or inconclusive result which may provoke uncertainty and anxiety.

Ethical Debates Surrounding CELL-FREE DNA NIPT

The societal and ethical implications of cfDNA NIPT are explored elsewhere in this volume, but it is worth examining how some of the current ethical debates encroach on the decision-making space for women making decisions around cfDNA NIPT. Concerns have been raised that provision of cfDNA NIPT will lead to a rise in the numbers of women taking up screening, in turn resulting in more diagnoses and, as the majority decide to terminate an affected pregnancy , ultimately more terminations and fewer live births of babies with Down’s syndrome. While such concerns have been contested , the spotlight on termination rates has triggered questions around how screening is presented to potential participants and the quality of the information provided on life with Down’s syndrome. In an attempt to address these concerns, the Fetal Anomaly Screening Programme in England established a comprehensive implementation plan for cfDNA NIPT in the NHS in conjunction with stakeholders . There is ongoing work on updating prescreening information literature. A comprehensive training program for health care professionals has been developed which encompasses the technical aspects of cfDNA NIPT and counseling issues. Both projects were achieved with input from a variety of stakeholders; these included national associations supporting families affected by trisomy 21, 18, and 13 and my own organization, ARC which supports women and couples throughout screening and provides specialized help to those who make the decision to terminate.

There is agreement that information provided about conditions must be up to date, balanced, and evidence based. Alongside medical information, there is a need for evidence of the lived experience of those living with the condition and their families. This is hampered somewhat by the limited data available on long-term outcomes, particularly for people with Down’s syndrome. Brian Skotko’s team at the Massachusetts General hospital for Children have established a patient database to track life span health of individuals with Down’s syndrome which should improve information in this area .

There is contention around how balanced the condition-related information provided to parents might be and how this may affect decision-making. In 2006, ARC was involved in a project in conjunction with disability support organizations and academics to create a website which sought to provide balanced information on screened for conditions to inform parent decision-making through screening . Testimonies from those living with conditions were given prominence. Unfortunately, the project was abandoned due to lack of sustainable funding. However, the early evaluations were mixed in relation to how “unbiased” those visiting the site considered it to be . The experience demonstrated the slippery nature of the concept of “balance.” This is further illustrated by the information provided on the Lettercase website in the United States for those who are seeking an overview of Down’s syndrome after receiving a prenatal diagnosis . The information is endorsed by the American College of Medical Genetics and Genomics (ACMG). The text covers many aspects of what living with the condition can mean, including associated challenges and is accompanied by compelling images of children and young people with Down’s syndrome. Research has suggested that photographic images that accompany text may have an impact on the neutrality of the information .

It is necessary to present a realistic picture of the lived experience of people living with the conditions cfDNA NIPT screens for, but at the same time it is important to remember that a prenatal diagnosis means expectant parents are making decisions about the fetus in utero. This is a child not yet born. They try to imagine a future containing this child which can often be fraught with uncertainty. No prenatal test can predict with absolute certainty how the chromosomal change is going to affect an individual. In the context of a wanted pregnancy most women and couples conceptualize a baby and invest in that baby hopes and dreams for him or her and their family. They will often need the space to work out whether they want to make the adjustment to what could be a very different future for their child, themselves, and their family from the one they envisaged before the diagnosis.

Before and after prenatal screening, access to evidence-based information about what continuing the pregnancy and having a child with a chromosomal change might involve is essential to help women make the decisions they can best live with. However, women must also be reassured that screening is predicated on offering and supporting choice and that terminating the pregnancy is a valid and acceptable option. This is especially important when abortion in general is stigmatized and at a time when what has been called “abortion for disability” is held up as ethically questionable in some quarters .

Termination for fetal anomaly and particularly Down’s syndrome has been problematized by some disability advocates and antiabortion campaigners as being inherently discriminatory toward disabled people . They cite the “expressivist” argument which sees individual decisions to terminate a pregnancy because of Down’s syndrome as denigrating the value of those living with the condition. This view is combined with the assertion that widespread implementation of cfDNA NIPT will lead to greater uptake of screening and an increase in termination, which could ultimately threaten the very existence of the community of people with Down’s syndrome. Organizations such as “Saving Down Syndrome” (which was established in New Zealand but has groups in the United States and UK) are explicit in their aims . The Saving Down Syndrome mission statement reads “We wish to ensure that prenatal screening exists only to provide unborn children with Down’s syndrome and their parents with life-affirming unbiased care through education, support and understanding – worldwide.”

Many disability rights advocates have expressed disquiet with prenatal screening and are uncomfortable with subsequent choices to end a pregnancy when a diagnosis is made , but not all favor restricting parental reproductive choice. The British academic and disability rights campaigner (who himself has achondroplasia) Professor Tom Shakespeare acknowledges the difficulties but supports parents being enabled to make autonomous choices: “I conclude that prenatal diagnosis is not straightforwardly eugenic or discriminatory. We should be on hand to offer counselling, good quality information and support, but we should not venture to dictate where the duties of prospective parents may lie. Nor should we interpret a decision or termination of pregnancy as expressing disrespect or discrimination towards disabled people. Choices in pregnancy are painful and may be experienced as burdensome but they are not incompatible with disability rights” .

These ethical debates around cfDNA NIPT are not restricted to academia but have also been taken up extensively by both mainstream and social media. They are important discussions and the open exchange of views is to be welcomed and can be helpful in the quest to negotiate how we can maximize societal benefit from cfDNA NIPT. At the same time, as with any debate played out in the media, there is the danger of oversimplification and polarization. Expectant parents are not making their decisions in a vacuum. Those caring for parents need to be aware that this coverage will often form part of the background to parents contemplating cfDNA NIPT or facing difficult decisions following an cfDNA NIPT result. Some will be aware of the ethical debates in the media, others may encounter strong opinions when seeking information online to aid their decision-making. Either way, when supporting decision-making, it is incumbent on their caregivers to ensure that nothing encountered in the media is allowed to inhibit expectant parents’ ability to express their preferences and act according to their own values and unique circumstances. They are the ones who will live with the decisions they make.

Decision-Making Around CELL-FREE DNA NIPT in the Private Sector

Private sector providers of cfDNA NIPT now extend across the world. It is offered in a variety of settings, from hospitals and clinician’s private offices, to ultrasound scan clinics. Although there does not yet seem to be a “direct to consumer” option there are outlets on line which allow parents to purchase a testing kit and then simply seek clinical assistance to take the blood sample . We can estimate that thousands of private tests are being performed annually but private providers will not necessarily be aware of pregnancy outcomes.

As results from cfDNA NIPT can lead to profound decisions for expectant parents, all providers have a responsibility to do their best to ensure that parents are making informed choices when using their services. This is especially true when a woman may seek private testing independently, before any discussions with her antenatal care provider. cfDNA NIPT has been widely reported as having a “greater than 99% accuracy” which may mislead some women into thinking it is practically diagnostic. Any prospective user of cfDNA NIPT must be properly appraised of the limitations and potential outcomes of the testing as well as potential benefits.

A 2015 systematic review of UK cfDNA NIPT websites concluded: “we would recommend that companies offering prenatal testing services via the Internet should be required to review and maintain their information for prospective parents to ensure it is comprehensive, accurate and easily accessible and includes information recommended by national and international bodies” . In 2017 an expert working group, convened by the UK-based nongovernmental organization the Nuffield Council on Bioethics, reviewed evidence and consulted widely to produce a comprehensive report on the ethical issues associated with cfDNA NIPT. They proposed that the information provided by private providers should be quality assured by a recognized national body. They have produced a downloadable leaflet as guidance. The report also recommends that providers “should only offer cfDNA NIPT as part of an inclusive package of care that should include, at a minimum, pre- and post-test counselling and follow-up invasive testing if required” .

It is likely that, for the foreseeable future and within public health settings, cfDNA NIPT will only be offered to women with elevated risk. At the same time in most countries access is possible via private providers for all patients willing and able to pay themselves, regardless of their a priori risk. Regulations for private tests vary across jurisdictions. Ideally, easily accessible online guidance for both expectant parents considering testing in the private sector, and providers, informed and endorsed by relevant international and national professional bodies and stakeholder organizations would be helpful. The Nuffield Council provides a good model .