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PHL 444- Discussion 4: Prenatal Genetic Testing

Sep 12, 2023

This discussion topic asks you to take some of the things we’ve talked about with regard to consumer genetic testing and apply them to a medical genetic test. Imagine a rare, potentially lethal, recessive genetic disease called SEG, which is a mutation of a gene carried on the “X” sex chromosome. Being “recessive” means that if there’s a typical gene as well as the SEG gene, the person carrying it will not have that disease. SEG manifests in early adulthood, and severely impairs muscular movement, resulting in either disability or death, depending on the mutation. Genetic females usually carry two “X” sex chromosomes, one from each parent. Genetic males usually carry one “X” and one sex chromosome. The end result is that SEG disease is much more likely to be displayed in males (who don’t have another X chromosome to cover up the effects of the SEG chromosome) than females.

A heterosexual couple has discovered they are pregnant. The pregnant woman knows that SEG has appeared in her family; one of her brothers died from the disease in his late 20s. She does not know, however, if it was a fluke mutation or if in fact, this gene has been part of her family’s genetic background. The couple would like to figure out whether it’s possible that their child-to-be is carrying the SEG mutation. Here are the options they’re considering:

The pregnant woman could be tested for the SEG mutation; if she has it, there’s a 50/50 chance that she has passed it on to the fetus. The fetus’s genetic makeup could be determined by sampling some fetal tissue; getting a tissue sample from the fetus can result in the loss of the fetus in up to 2% of cases The parents have concerns about the possibility of the fetus being harmed or even dying, and they also have concerns about insurance companies acquiring the hospital data and denying them (or their child/children) health insurance. Questions: Should they do either test? If not, why not? If so, which one/s and why?

Discussion 4: Prenatal Genetic Testing

Parents can learn about possible congenital disabilities or genetic illnesses their unborn child might also have through prenatal genetic testing. These examinations are voluntary, compared to some of the standard prenatal testings, including blood group, blood count, and glucose screenings. Choose the assessments that are best for you after consulting with your healthcare professional. In combination with standard pregnancy tests, some individuals choose to receive prenatal genetic testing. Genetic testing during pregnancy is not recommended (Lippman, 2020, p. 118).  Genetic differences are characterized by a person’s chromosomes or heredity. A gene is a constituent of your body’s tissues that contains blueprints according to how your body functions. Your genes are stored on chromosomes. Congenital abnormalities are present during birth, and a number of these abnormalities can be identified by medical professionals before pregnancy. 

From my point of view, I think it would be more ethical to have a test for SEG mutation for pregnant women because many genetic disorders brought on by errors in a gene or chromosome are detectable through medical testing. They can generally inform adoptive families about whether or not their fetus has a specific genetic disorder. A woman is at a modest risk of miscarriage after undergoing some medical testing. By using this test instead of the fetal test, the possibility of injury to the unborn child would be eliminated. Moreover, the parents were concerned that the hospital records would be obtained by insurance providers, who could then refuse them or their children’s insurance coverage. They are also worried that the fetus could be injured or perhaps even die (Dukhovny & Norton, 2018, p. 272).  Consequently, in the event that the couple decides to obtain a small piece of tissue from the embryo, they may be endangering the unborn child. I think more research or investigations would have to be conducted to determine if they would still be able to afford health insurance for their youngsters. 

Additionally, participating in genetic or treatment monitoring assessment has advantages in that learning the results beforehand would encourage parents to prepare for a child who might have special needs. The chance of miscarriages, as well as other pregnancy difficulties, does, nevertheless, marginally increase as a consequence of these tests. Some believe that racial discrimination against individuals with “deficient” DNA might result from genetic analysis. Furthermore, they worry that genetic analysis will result in judgments about having children being dependent on the children’s genetics.

References

Dukhovny, S., & Norton, M. E. (2018, August). What are the goals of prenatal genetic testing? In Seminars in perinatology (Vol. 42, No. 5, pp. 270-274). WB Saunders.

Lippman, A. (2020). Prenatal genetic testing and screening: constructing needs and reinforcing inequities. Women, Medicine, Ethics and the Law, 93

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