A Broad Ethical Approach to Screening for Prenatal Genetic Defects – Dr Megan Best

A dilemma for those who value human life before birth


from Luke’s Journal 2019 | Hot Topics #2 | Vol. 24 No. 1

A pregnant woman having an ultrasound.

I’m not sure who it was that decided it was more empowering for women to:

a) have the opportunity to screen their unborn child for genetic abnormality and abort those found wanting, rather than

b) provide adequate support after the birth to care for a child with special needs.

However, the practice of prenatal screening, diagnosis and termination is a well-established practice in our society and something with which registered medical practitioners have to deal. This creates a dilemma for those of us who value human life before birth.

Contemporary medical curricula propose ‘Principlism’ as the basis of bioethics. Principlism is the term used to describe an approach to biomedical ethics advocated by Tom Beauchamp and James Childress. They suggested that respect for autonomy (the right for an individual to make self-governing choices), nonmaleficence (above all, do no harm), beneficence (act in the best interests of the patient) and justice (treat all persons fairly and equally) should guide ethical thinking in health care.

In their defence, they never intended the principles to play the part of an independent ethical theory, but nonetheless, these principles frame the ethical thinking of many healthcare workers.

So when we come to the question of an ethical approach to prenatal genetic screening, it is easy to be confused. For example, beneficence for whom? I do not commend Principlism to Christians as a helpful way to make ethical decisions in healthcare but, in view of its popularity, let us consider the principles in this situation.

“In our democratic society, we cannot stop people from making decisions we disagree with, but we can reduce the number of people that make uninformed decisions.”

An unborn child cannot exert autonomy. It is not capable of making decisions. Therefore, it is the autonomy of the mother that is regarded when it comes to prenatal screening.

It would be possible to attribute beneficence to the child, but in practice this can be done only with the agreement of the (autonomous) mother. A problem arises when termination is considered, since what is often seen by the mother as beneficence (relieving her of the burden of a genetically defective child), can hardly be considered to be in the best interests of the child. Likewise, attribution of maleficence and justice will result in opposition between the two. This is one of the weaknesses of Principlism – it doesn’t give us guidance in a situation where the principles conflict.

However, it is easy to see that the key person regarding the outcome of prenatal screening will be the mother. Hence it is absolutely necessary to make sure she understands what it’s all about. In our democratic society, we cannot stop people from making decisions we disagree with, but we can reduce the number of people that make uninformed decisions.

As Christians, we worship a God who has a special concern for the vulnerable and the weak. As we love our God and our neighbour, we will seek to protect those unborn humans who cannot protect themselves. This is not forcing our ideas onto a non-Christian public. This is showing concern for fellow human beings.

The medical practitioner who is in a situation where she is legally obliged to offer prenatal genetic screening to a pregnant woman is in a privileged, but challenging position. Privileged, because she has the opportunity to help the woman involved to realise her choices in a society where testing is often routine. Challenging, because this comes at a cost. It takes time to explain to a newly-pregnant woman that some of the tests she is being offered are to see if the child has a genetic abnormality. And, as many conditions screened for do not have treatment available, that termination is one of the options available in the case of a positive result. Add to that explaining the concepts of risk, partial and full penetrability of genes, genotype and phenotype, and (once genomic screening is available) incidental findings or those of unknown significance – most of us doctors need to have it explained to us first!

“Often families benefit from visiting those who are living with a child with the same condition as that diagnosed in the fetus.”

So what are we to do? Obviously we need to educate ourselves so we can explain the basics of the tests, and/or know who you can refer to for more counselling. Also, remember that the decision doesn’t have to be made on the spot – in fact, many people advocate a ‘cooling off’ period before going ahead with tests like these.

The father and other members of the family may want to discuss the options as well.

Whatever your own views on prenatal screening, remember that tests such as ultrasound give valuable information for managing a pregnancy, such as locating placental position, as well as looking for fetal anomalies. Furthermore, many couples opposed to termination will benefit from knowing in advance the need to prepare for a child who will need extra care. Don’t discard the notion of screening altogether. If you and your patient want to limit what is sought in a scan, talk to the local sonographer and radiologist. Find someone who will cooperate with limiting the scope of the examination. It’s not all-or-nothing.

In the event of a high-risk or abnormal result, many women will struggle to know what is the right response. Once again, it is vital that they understand there is a choice and that there is no rush in making it. Often families benefit from visiting those who are living with a child with the same condition as that diagnosed in the fetus. Seeing someone affected by the condition diagnosed is known to reduce the incidence of decisions to terminate the pregnancy.

Often termination is chosen because the mother feels unable to cope. Once again, knowing the local resources available locally to help those who are in need of emotional, physical, or spiritual support will make a difference.

It seems that within the current system, who should live and who should die is dependent on the genes and the wantedness of the child. Let’s do all we can to help our patients make the best decision possible.

Dr Megan Best
Dr Megan Best is a bioethicist, palliative care doctor and psycho-oncology researcher at the University of Sydney and the University of Notre Dame Australia. She is the author of Fearfully and Wonderfully Made (2012), a comprehensive, Biblically-based ethical handbook about issues at the beginning of life.