Conveying Information About Screening and Diagnosis

Why Good Practice in Information-Giving Is so Important

Choosing to have a prenatal screening test can have far-reaching consequences. High levels of anxiety are frequently associated with receiving a positive screening result–anxiety that may dissipate but is never forgotten. Most prenatal diagnostic testing procedures are associated with a risk for miscarriage, and the period spent waiting for the results is often characterised by acute anxiety. This anxiety is partly about pregnancy loss, but, especially if the test was carried out after a positive screening result, worry about fetal abnormality. In most cases, the only intervention on offer after a diagnosis of anomaly is termination of pregnancy. For most women, choosing to end a wanted pregnancy is painful, and for some women, it is emotionally devastating. If the limitations of screening are not understood, parents may find it harder to adjust if a disabled child is subsequently born. For all these reasons, prenatal screening and testing decisions should reflect the values of the individual woman. There are a number of definitions of what constitutes an informed decision, however, the following works well within the prenatal testing context:

An informed decision occurs when an individual understands the nature of the disease or condition being addressed; understands the clinical service and its likely consequences, including risks, limitations, benefits, alternatives, and uncertainties; has considered [her] preferences as appropriate; has participated in decision making at a personally desirable level; and makes a decision consistent with [her] preferences and values.

The Information Needs of Women and Their Partners

First and foremost, women want timely, up-to-date, accurate information about testing delivered by a source they trust, in a format that is understandable. There are a number of information components that are considered essential to convey and as a minimum information (verbal or written) given before the offer of any prenatal test should make clear:

• The purpose of the test (e.g., what it is screening for and in certain circumstances what it does not screen for)

• Information about the tested-for condition(s)

• What the procedures for testing involve

• Any maternal or fetal risks associated with the test

• The implications of the possible test results, including anxiety, uncertain results, decisions about further tests and termination of pregnancy

• The difference between screening and diagnosis

Individual women will have different information preferences and requirements, and an important factor in women’s decisions about prenatal diagnosis and termination of pregnancy is their perception about the quality of life for, and with, a child with a tested-for condition. A particular concern is whether or not a child would experience pain or other forms of ‘suffering’ as a result of the condition or its medical treatment. Knowledge of even relatively common conditions such as Down syndrome has been shown to be low because many people have little personal experience of interacting with disabled people and their families. It is essential, therefore, that balanced information based on the lived experience of families and individuals with a tested-for condition is made available throughout the testing pathway. Public Health England’s Screening Tests for You and Your Baby booklet, which is given to all pregnant women in England and Wales, has addressed this need to some degree, providing information on the main conditions covered by the Fetal Anomaly Screening Programme: sickle cell and thalassaemia, Down syndrome, Edwards syndrome and Patau syndrome, developed in consultation with parent support organisations.

It has sometimes been assumed that certain ethnic or religious groups, particularly Muslim women, would not use prenatal testing or terminate an affected pregnancy. However, although religion is a factor in reproductive decision making for many people, it is not necessarily the most important one. Women across a range of ethnicities and religions make testing and termination decisions based on their own values and beliefs, which are influenced by personal experiences as well as information provided by clinicians. It is crucial to recognise individual diversity in beliefs and preferences to ensure equality of access to prenatal testing services. This includes access to information; for example, in the United Kingdom, the Screening Tests for You and Your Baby booklet has been translated from English into 12 other languages.

Is Information-Giving Sufficient for Informed Decision Making?

Good-quality information is necessary for an informed decision, but in many cases, it will not be sufficient. In particular, women who have lower levels of literacy or for whom English is not their first language are not well served by written information. Not all women wish to make choices ‘on their own’ but instead value professional input to the decision-making process. However, not all clinicians are comfortable with helping a woman make the decision because of fears of being directive and so prefer to act as information providers only. Helping a woman and her partner to understand, for example, the limitations of screening and facilitating a discussion about potential use of test results should be considered an integral part of the role of clinicians delivering prenatal care.

Conveying Information About Risk

Practitioners are often concerned about how to convey risk information so that women can use this information to understand test results and make further informed decisions. However, the mathematical concepts of population screening that underlie screening tests are not ones that most people deal with during their everyday lives. Research shows that many women struggle to understand risk in relation to prenatal tests, as do some clinicians. In some countries, including the United Kingdom, the offer of further testing is made only to women whose screening risk exceeds a predetermined cutoff value (currently 1 in 150), which reflects policy decisions about the optimum tradeoff between detection and safety for the screened population as a whole. The rationale behind the choosing of a specific risk cutoff for offering further (potentially invasive) tests is probably understood by only a tiny percentage of those involved.

There is some evidence that understanding of residual risk in ‘screen negatives’ can be enhanced by presenting screening test results in numbers (e.g., 1 in 800) rather than in nonspecific word terms, such as a ‘low-risk’ result. Some have also recommended providing multiple formats of the same information, for example, a 1 per 100 chance of an affected pregnancy should also be presented as a 1% chance of the baby being affected and a 99% chance that the baby will not be affected. Providing alternative framings of the same risk information may also help to reduce certain decision-making biases associated with ‘negative’ and ‘positive’ presentations.

Severely anxious reactions to screen positive results have often been attributed to women misunderstanding the meaning of a screening test risk result. This has partly driven the search to find the optimal way to deliver risk information so that women can understand risk appropriately. The assumption has been that correct understanding of risk will reduce anxiety and ensure that women realise the residual risk inherent in a screen negative result. However, although conveying risk information appropriately is important, understanding risk may not necessarily alleviate anxiety associated with screening results. Women need to be informed about the potential for unwanted, inconclusive or unexpected results, even if information alone does not adequately prepare them. ‘Misunderstandings’, as judged by clinicians, may also reflect a need for people to simplify risk-related information to make difficult decisions more manageable.

Women offered an invasive test after a screen positive result can, of course, decline it, and the lower the individual woman’s screening risk, the more likely she is to decline further testing. This suggests that even if women do not understand the mathematics of screening, they do use risk information in a more basic sense when making decisions about invasive testing. Some have interpreted this as showing that women consider safety to be more important than detection, but such a simple conclusion would be unjustified. The views of women not currently offered invasive testing because their screening risk is considered too low to justify the associated miscarriage risk must also be examined if a full picture is to be obtained. A number of hypothetical studies have shown ‘unmet demand’ for diagnostic testing amongst such women, and this has been supported more by studies of actual uptake rates. Therefore, for some women in some circumstances, detection is more important than a miscarriage risk of around 1%. The logical conclusion of this body of work is that all women, not just those deemed to be at high risk, should be given information about their individual risk and be supported in deciding whether or not to have further tests, including an invasive test. In the United States, for example, it is recommended that all women are offered the option of an invasive test as well as the option of doing nothing or having screening.