Decisional Support for Expectant Parents

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.