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Prenatal Genetic Testing: Reproductive Choice & Ethical Concerns

Updated: Jun 14, 2023

By Diya Prajapati


Prenatal genetic testing allows for parents to determine the risk of their child developing a genetic disorder. Today, tests can diagnose up to 400 disorders, some of which are rare and have few cures. There are two types of prenatal genetic tests: career screening, in which future parents use a blood sample or a tissue sample to determine whether the parent can possibly pass on an inherited disorder; and prenatal genetic screening tests using the pregnant mother’s blood, ultrasound exams, amniotic fluid, or tissue sample from the placenta. There is also cell-free DNA testing that uses the DNA released from the placenta that is released into the woman’s bloodstream. It can be used to screen for Down Syndrome, and problems with the number of sex chromosomes. It is currently recommended that women should be offered carrier screening for signal muscular atrophy and cystic fibrosis. Prenatal testing may also be recommended to those who want to screen for conditions that run in the family such as fragile X syndrome.


At first genetic testing used to be recommended to those who had family history or were at risk of certain genetic conditions. However, over time as people with different ancestries began having families together, genetic testing started diagnosing more disorders, and became faster, cheaper, the more people began to get genetic testing done. The issue of the ethics of determining how likely a child can develop a certain genetic condition has raised concerns considering eugenics, sterilization, and the freedom a woman has to choose whether she wants to have the child.


The ability of prenatal genetic testing is well-intentioned. It allows potential parents to understand the risks of the child having the disease, and be informed before making a reproductive choice. However, on a larger scale, this raises apprehension about its similarity to eugenics. Eugenics has to do with creating a population that is ridden of undesirable traits whether through sterilization or removing people from society who have those traits. To some, screening for genetic disorders seems to be a prevention-based measure. The primary concern is that it reduces the prevalence of people with genetic conditions. Thus, genetic screening seems to create the implication that people with genetic disorders are undesirable or not as valuable. As such, the choice goes beyond biology to socio-cultural factors. It is possible for a person with a genetic condition to thrive, different, but accepted. For instance, a person with dwarfism may expect to face some challenges with being significantly shorter than much of the population, but with support and lifestyle adjustments can carry on with their lives as any other person. However, with large-scale, population screening, there rises the issue of ethics.


Another issue with prenatal screening in its increasing popularity and the ease of which it can be administered (external samples of saliva, blood, or tissue from within the cheek) is that routine screening may rob the woman of the liberty to decide whether she wants the child. The routinization may create a pressure to make one decision over the other, for society and not the individual or family’s choice in whether they want to plan a pregnancy or continue one. It takes away from the choices that the parent could make such as planning pregnancy and having the fetus tested, using IVF to test the embryo before transfer, or simply choosing not to have the pregnancy or adopt a child.


The importance of privacy, non-disclosure, and informed consent is illustrated by the potential ethical worries. According to the AMA Principles of Medical Ethics, genetic counselors should ensure that during counseling, their own moral values or judgements do not influence the final decision. They are also expected to discuss the pros and cons of genetic testing as well as informing them of unethical uses of genetic testing, such as trying to find out traits not related to disease.


By maintaining genetic screening as a personal choice suggested to those who think they may be carriers or at increased risk for genetic conditions, it allows for prenatal genetic testing to be about choice and remain ethical.


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