Ethical considerations of mandatory pregnancy screening for chromosomal disorders: A Guidance

Ethical Considerations of Mandatory Pregnancy Screening for Chromosomal Disorders: A Guidance

The purpose of this guidance is to present evidence surrounding ethical considerations regarding prenatal screening for chromosomal disorders; the pros and cons of making this procedure mandatory for expecting mothers, and the rules and regulations healthcare practitioners are advised to abide by. Pregnancy screening for chromosomal disorders could mean several things for different individuals, and this is important to consider in the application of healthcare systems. Knowledge of chromosomal disorder risk could result in dilemmas if pregnant women and couples’ choice is not in line with their cultural or religious needs. The overall evidence in the literature regarding pregnancy screening for chromosomal disorders highlights the role of choice in the decision-making process.
Genomic medicine advancement has led to an important change in the types of genetic testing available for pregnant mothers, such as non-invasive prenatal testing (NIPT). For this guidance article, this method will be the main focus. The National Screening Committee (NSC) has advised that every pregnant woman is offered to undergo screening for chromosomal abnormality; Down’s Syndrome (DS). According to the National Health Service (NHS), the discovery rate for this is at 85%, where about 2.5% represents a positive screen (Liang et al., 2013).  If there’s a higher risk of DS, they are offered invasive diagnostic test such as chorionic villus sampling (CVS) and/or amniocentesis (Laglois and Brock, 2013). In the process, further chromosomal disorders could be found. The testing is done between 10th to the 14th weeks of pregnancy.
Ethical Considerations
Utilitarianism (Smart and Williams, 2002) state that moral actions depend on their consequences. This theory focuses on good or bad through the effect of the consequences, for example, actions are considered right if they produce highly positive levels of happiness. This argument can be used in the event of screening for chromosomal abnormalities in order to reduce babies born with congenital conditions, in order to reduce responsibility for the parents and at large, society thus, the choice of termination of pregnancy produces the best value. The second theory of decision-making is put forward by O’Neill (2002), which takes a Kantian perspective; rightness is not measured by the outcome but instead, by intention. This perspective’s foundation is based on respect and is what bioethics follow in order to provide ethical guidelines which fit every individual in a multicultural society. 

In the UK, the NSC aim to set guidelines to aid primary care provide clear and concise information to pregnant women and couples about the availability of NIPS for chromosomal disorders. NIPT test is in the process of being made available at no cost to pregnant women who may be at risk (advanced age). Before pregnant women and couples are offered NIPT for potential chromosomal disorders at 10 to 14 weeks of pregnancy, they are provided with non-directive information about chromosomal disorders and interventions that are available should their results come back positive for a chromosomal disorder (Dondorp et al., 2015). Abortion is an option for couples to consider if further testing confirms chromosomal abnormalities. This means that agency of choice is given to the expecting parent(s), without coercion from the healthcare practitioner. Non-directive counselling in the process of offering this service is expected of healthcare practitioners, to facilitate patient autonomy (Papp et al., 1994).  If patient autonomy is intervened or restricted it is considered unethical in practice (Wright and Chitty, 2009). 

The consensus in clinical guidelines in the UK highlights the importance of facilitating informed choice for pregnant women and couples (NSC, 2011). If a couple wishes to terminate the pregnancy due to a chromosomal abnormality, it can be psychologically demanding to make such a choice, especially one that is controversial in nature (Papp et al., 1994). This is because for some, termination of a pregnancy based on, for example, Down Syndrome is unethical as the foetus does not have the right to protection from harm. Whilst a foetus doesn’t have legal status as that of a child or adult, the moral status is often controversial (Feinberg, 1980). This is because in India for example, the state has banned sex determination diagnosis, due to a strong cultural preference for a male child. On this basis, it could be comparable with sex determination, as termination on the basis of chromosomal abnormality is discriminatory to disabled individuals in society (Asch, 1999). 

The government has duties to make sure that public healthcare services are beneficial and are not causing harm to individuals. In case of costs, it is the state’s duty to provide healthcare treatments, services, and tests by funding healthcare services in the public (NHS, 2015). However, making NIPT mandatory for pregnant women could be seen as counterproductive as the policy itself is undermining the right to choose without coercion. Additionally, equality in society could be an issue as some applications of NIPT may be considered unethical if they increase termination in pregnancies after diagnosis of chromosomal abnormalities thus, possibly promoting inequality and exclusion from society (Loane et al., 2013).

Equality in society is often praised, and whilst this is important, it does mean that societal inequalities still exist, especially at the levels of education, income, health, cultural, age, wealth, gender, and disability (Scope, 2014). However, it is important to remember the role of autonomy given to women through reproductive choice (Saul, 2003). In the UK, more women are choosing to enter motherhood at a later stage in life, which is a risk factor for NIPT (Office for National Statistics, 2016). The access to safe, secure prenatal screening for chromosomal abnormalities correlated with becoming mother at an older age such as Edwards’, Down’s, and Patau’s syndromes, could help pregnant women to either accept the possibility of giving birth to a child with congenital condition or pursue other interventions, if they choose not to go through with the pregnancy. 

NIPT is currently available to only those who can afford it within the private healthcare sector at around £400-£900 (Antenatal Results and Choices, 2013). As such, health inequalities in this part could get worse over time, as it is not accessible for individuals from low-income backgrounds (NHS, 2015). If NIPS were mandatory for the diagnosis of chromosomal abnormalities, individuals from this socio-economic background would have to pay for a service they could not afford. As such, it is important that implementation is part of the public healthcare service.

NIPT has the potential to increase couples and women’s reproductive choices. Given that an accurate and balanced view is provided, NIPT has the potential to give accurate information regarding whether foetus does or does not have a congenital anomaly. This is helpful if couples and women are helped to psychologically prepare for caring for a disabled child. If termination is chosen, this can be detected as early as 10 weeks into a pregnancy, avoiding late terminations (de Jong et al., 2015). Alternatively, NIPT could be viewed as a way to undermine reproductive choice, especially in the manner it is delivered. Pressure from healthcare practitioners to undertake NIPT can be viewed as a selection tool to eliminate genetic abnormalities in foetuses thus, increase in termination of pregnancies and fewer individuals in society with congenital conditions (Greely, 2011). In addition, informed consent is an issue regarding NIPT. Making this procedure mandatory would undermine patient autonomy, it also differs from other invasive screening methods. NIPT involves a blood test, and this is a concern as it is often seen as part of the routine prenatal procedure by pregnant women and couples thus, infringing on their informed consent (Liang et al., 2013).
Currently, NIPT costs £500-£900 in the private healthcare sector. It is important to note that before NIPT is made part of routine practice, evaluation of screening programmes must be carried out. Following the ethical guidelines, it is clear that pregnant women and couples should have the right to NIPT in a non-directive manner in order to find out genetic anomaly early in the pregnancy. Moreover, NIPT provides information which can help families and pregnant women make decisions on their own. In the event of NIPT being offered to women and couples, it is important that this is done in an environment which offers women and families autonomous, informed choices in regards to NIPT (Michie et al., 2002). By this logic, making pregnancy screening for chromosomal abnormalities mandatory is considered unethical, as it is infringing upon another’s autonomous choice, cultural, and possibly religious views. Ethical guidelines healthcare professionals follow involve freedom given to their patients, and the decisions they make in the consultation. Without this, women’s reproductive rights would be impacted negatively, as well as individuals who choose not to undergo pregnancy screening such as NIPT, even in the event of a congenital disorder. This is their right ‘to not know’, and continue with the pregnancy. In this case, support should be provided and their individual rights to be respected by healthcare professionals. Whilst NIPT is not a high risk for physical harm and miscarriage (Tabor and Alfirevic, 2010), it has potential to create psychological suffering for expecting mothers in the event of a chromosomal abnormality in the foetus, as well as in the process of waiting for results. It is unethical to force individuals to undergo psychological distress if they do not consent. 


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