Introduction

Prenatal diagnosis is a relatively recent development in obstetric practice and has presented new options for pregnant women. Advances in genetics and molecular biology have provided a scientific explanation for the origin and development of the fetus. With the rapidly expanding capabilities in prenatal diagnosis and treatment resulting from new technologies, the medical profession is increasingly being confronted with legal and ethical dilemmas. The concept of the fetus as a ‘person’ has evolved rapidly and is widely accepted in well-resourced countries. This has been encouraged by developments in fetal diagnosis and management strategies to optimise fetal outcome. If the fetus is regarded as a person, directive counselling (i.e. recommending a form of management for fetal benefit) is appropriate. In other circumstances, non-directive counselling (i.e. offering but not recommending a form of management for fetal benefit) is appropriate.

The techniques of real-time ultrasonography and fetoscopy provide the means of detailed anatomical examination of the fetus and fetal-tissue sampling, respectively. With these advances, the ‘ill’ fetus can be examined, investigated and treated in selected cases, as would be the case in postnatal life. Although most medical and correctable surgical abnormalities that can be diagnosed in-utero are best managed by appropriate treatment after delivery, the outcome may be improved by prior, prenatal knowledge of the abnormality so that appropriate pre-delivery arrangements are made timeously. In this chapter, we address the ethical concerns in prenatal diagnosis and fetal therapy, particularly in resource-constrained communities where the need may be great, but the lack of technical expertise and appropriate equipment are major challenges. Conflicts among ethical obligations to the mother and the fetus will also be addressed, as intervention that may be beneficial to the fetus may be potentially harmful to the mother and vice versa .

Prenatal diagnosis

Prenatal diagnosis is preceded by prenatal counselling, which could be a challenge for a practising obstetrician. This process involves carrying out risk assessment and implies that the attending obstetrician should be well informed about available prenatal testing options. In addition, the information should be conveyed to the patient in simple, understandable language so that the latter can enter into a decision-making process with the obstetrician. With recent advances in imaging, invasive techniques, the safety to the mother and the baby, and the improvement in interpretation of such tests, the sub-speciality of feto–maternal medicine has rapidly evolved. Obstetricians who are feto–maternal subspecialists bear a responsibility towards patients and their fetuses. A diagnostic error may result in the loss of a normal pregnancy or the avoidable birth of a physically handicapped child. Although the decision to offer the test may be harmful to the prospective mother because it may bring additional stress, failure to offer the test may deprive the woman of her right to know and thereby restrict her choice to make an informed decision. Many fetal abnormalities are potentially detectable, and more are being recognised with advances in feto–maternal medicine. The obstetrician should be aware of all available tests and counsel their parents appropriately so that they can make informed decisions about prenatal screening, the likely interventions and possible outcomes. Prenatal tests can be divided into non-invasive and invasive tests.

Prenatal diagnosis

Prenatal diagnosis is preceded by prenatal counselling, which could be a challenge for a practising obstetrician. This process involves carrying out risk assessment and implies that the attending obstetrician should be well informed about available prenatal testing options. In addition, the information should be conveyed to the patient in simple, understandable language so that the latter can enter into a decision-making process with the obstetrician. With recent advances in imaging, invasive techniques, the safety to the mother and the baby, and the improvement in interpretation of such tests, the sub-speciality of feto–maternal medicine has rapidly evolved. Obstetricians who are feto–maternal subspecialists bear a responsibility towards patients and their fetuses. A diagnostic error may result in the loss of a normal pregnancy or the avoidable birth of a physically handicapped child. Although the decision to offer the test may be harmful to the prospective mother because it may bring additional stress, failure to offer the test may deprive the woman of her right to know and thereby restrict her choice to make an informed decision. Many fetal abnormalities are potentially detectable, and more are being recognised with advances in feto–maternal medicine. The obstetrician should be aware of all available tests and counsel their parents appropriately so that they can make informed decisions about prenatal screening, the likely interventions and possible outcomes. Prenatal tests can be divided into non-invasive and invasive tests.

Moral status of the fetus

All human life deserves respect although, in law, this respect only comes into effect after the birth of the child. Traditionally, women increase their identification with the developing fetus as pregnancy progresses, and full recognition of the individuality of the fetus is accorded at ‘quickening’ (i.e. when the first fetal movements are felt). Late antenatal presentation, with an abnormal, viable fetus, presents ethical challenges in that should termination of pregnancy be considered, the moral status of the fetus comes into play. The World Medical Association Declaration on the Rights of the Patient states that the patient has the right to self-determination to make free decisions regarding herself. The link between a pre-viable fetus and the pregnant woman is the woman’s autonomy and, at this time, it is the woman’s prerogative to confer moral status on the fetus. Once fetal viability is reached, however, the fetus becomes a patient, and it becomes an ethical responsibility of the healthcare professionals to protect the rights of the fetus. Chervenak et al. strongly advocate that healthcare professionals should limit access to termination of pregnancy in advanced pregnancy except when absence of cognitive developmental capacity is expected. One of the important pre-requisites of relating the ‘right to life’ to fetal viability is access to modern life-sustaining technology, which is found in abundance in well-resourced countries, but conspicuously inadequate in resource-constrained countries. Healthcare professionals may find it ethically more acceptable to terminate the pregnancy of a woman carrying a fetus with a non-lethal abnormality in a resource-constrained country and not so willing to do the same for a woman in the same situation in a well-resourced country because of easy access to life-sustaining technology in the latter instance.

Patient autonomy

When counselling women for prenatal testing and diagnosis, healthcare professionals should be mindful of the woman’s autonomy and respect her right to choose. Autonomy is a central principle underlying counselling for prenatal testing, and respecting this principle implies more than simply allowing the patient to reach her own decision. The attending healthcare professional should respect the woman’s values, provide her with adequate information about the test, and assist and support her with implementation of her expressed preferences. McCullough and Chervenak have identified three sequential autonomy-based behaviours of the individual in dealing with ethical issues in medical practice: (1) absorbing and retaining information about the condition under discussion; (2) understanding the information (i.e. evaluating and rank-ordering those responses and appreciating that she could experience the risks of treatment); and (3) expressing a value-based preference.

During counselling, a relationship should be established with the woman in which her understanding of, and attitude to, prenatal screening, termination of pregnancy and disability are explored. Health professionals should particularly refrain from articulating their own preferences, as this could influence the woman who finds herself in a difficult and vulnerable position. The language used in prenatal counselling can, and does, influence the process and the outcome. Abramsky and Fletcher showed that couples at risk of fetal anomaly were less worried if the risk was expressed as a percentage. In the same study, it was found that couples were particularly worried when genetic terms, words such as rare, abnormal, syndrome, anomaly and high risk were used.

Legal termination of pregnancy is a controversial area of prenatal diagnosis, as there could be tension between respect for the individual’s rights to self-determination and the attitude and judgment of the healthcare professional. Patients usually have autonomy in selecting prenatal screening tests, but autonomy is not reciprocated in receiving test results or pregnancy options after communication of bad news. Healthcare professionals do not necessarily support the patient’s autonomous choices regarding termination of pregnancy for fetal anomaly. Autonomous decision-making may result in women making decisions that healthcare professionals do not agree with, or are uncomfortable with, but healthcare professionals should accept this as a good outcome of prenatal counselling, provided that patients are well-informed and are deemed capable of making that decision. Patients can also choose not to have a prenatal test after prenatal counselling if they judge that the information that the test provides may not be helpful to them in their decision-making.

Beneficence

The ethical principle of beneficence generates an obligation on the healthcare practitioner to protect and promote the patient’s interests. All healthcare professionals have a responsibility to provide beneficial advice and treatment and to minimise harm to the pregnant woman and her fetus. The healthcare practitioner is required to assess objectively and vigorously all available diagnostic and therapeutic options and to implement those that protect and promote the interests of the patient by securing for the patient the greater balance of good over harm. The principle of beneficence has to be balanced in clinical judgment by the principle of respect for autonomy. Thus, the healthcare professional needs to acknowledge that the patient has a perspective on her interests, a perspective that could be based on her values and beliefs, whether this is medically sound or not. The woman’s religious perspective, which could be the deciding factor, should be elicited. Although it is reasonable for expectant couples to consider only positive outcomes, it is the role of the healthcare professional to educate prospective parents on the options for fetal screening and testing. With recent advances in fetal medicine, couples are not always aware of what information can be provided by a prenatal diagnostic test. In fact, many couples enter pregnancy without a complete understanding of the potential maternal, fetal and newborn complications. On the other hand, information provided by a prenatal test may also be too overwhelming for the woman, her partner and her family. Both situations may make decision-making difficult for the woman, resulting in the healthcare professional having to decide for the woman. This could be viewed as paternalism, which is inadvisable in current practice. Women who are uninformed, with little or no formal education, rely more on healthcare professionals taking decisions on their behalf. Not every woman, however, wants to be given all available information, and it is not always clear what patients want to know. Patients should be afforded an opportunity to participate in setting goals and outcomes of prenatal tests, and healthcare professionals should not assume that all patients wish to be told all the information about their prenatal test. A pregnant woman, on being offered prenatal testing, may assume that some inherited or congenital condition gives rise to a lower quality of life for those who have such a condition. There is also an unarticulated expectation that with the availability of a screening test, prenatal test will reduce the incidence of the condition of interest in the population. This could be harmful in that it may be looked at as exemplifying eugenics (i.e. the improvement of the gene pool for subsequent generations through eradication of genetic disease), thereby discriminating against people living with the condition.

White SM & de Crespigny L, unpublished data in Progress in Obstetrics and Gynaecology, vol. 18 [page 89] found that, although 79% out of 29 women wished to be told all the information after a mid-trimester scan, 21% did not wish to be told about genetic markers. These women were informed, had already been tested for aneuploidy, had given careful thought to testing and did not want to revisit Down’s syndrome markers. In this survey, no woman requested not to be told if there was a structural abnormality, and healthcare professionals should, therefore, be aware that women do sometimes request general pregnancy information only. In such circumstances, a limited scan should be carried out as this would be time saving and would also reduce financial costs in resource-constrained countries. Healthcare practitioners may, under these circumstances, face an ethical dilemma because if they found a potential abnormality they may feel inclined to do further tests, which may not be feasible in resource-constrained countries. Women should be asked before an ultrasound examination is done to indicate the type of information they wish to be given, particularly in relation to minor abnormalities and markers of aneuploidy, and those who request a limited scan should be informed that minor anomalies may be markers of more serious disorders. Ethical obligations of the healthcare professional to a pregnant woman and her fetus work in concert because both parties will mostly agree on a management plan that best serves the interests of the woman and her unborn child. As autonomy-based and beneficence-based obligations to the fetus are equally weighted, conflicts between these ethical obligations can occur in the obstetric practice.