Final Research paper
The importance of prenatal genetic screening
Tia-Nia Drayton
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Prenatal genetic testing is a medical procedure that allows the pregnant mother to determine her chances of giving birth to a baby with a genetic disorder. The genetic disorders are usually as a result of abnormalities in the chromosome components leading to conditions such as Downs Syndrome Trisomy and Trisomy-8. This procedure informs the actions of the mother to be, in case the fetus is found with any deformity which can vary severity. The problem, however, is that prenatal genetic testing has faced a myriad of ethical and moral debates with individuals arguing that they tend to be invasive and also add emotional burden to the expectant mother. Therefore, the purpose of this paper is to highlight the importance of prenatal testing due to the evidence-based benefits associated with it. Prenatal testing is critical for every mother, more so, the high-risk cases, because it places them a better position to handle any issue, besides advancements in science and technology, have made the risks negligible.
The benefits of prenatal genetic testing
Advanced age adds a significant risk to the reproductive status of a woman. In this context, as a woman reaches her menopausal stage (35 years or older), the likelihood of giving birth to an infant with chromosomal disorders increases. In case a woman at this age range falls pregnant, undertaking a prenatal genetic testing will be very useful in determining the condition of the fetus. It also further informs the action that will be taken by the mother after the test results indicate a disorder. It also allows the parents to be emotionally and financially prepared to handle the caring of the infant should the pregnancy be allowed to advance. However, the downside is that this has propagated termination of pregnancies. According to Mansfield et al. (1999), it was found that termination rates increased by, for instance, 92 % after a prenatal diagnosis of Down syndrome.
The parents have more say in the kind of testing they would like to undertake. Today advancements have been made in genetic testing which offers a wide variety genetic markers. Depending on the preferences of the parents, they can choose the markers which indicate the conditions which their pre-born infants will be predisposed. This also protects the privacy of the parents from scrutiny. Jong et al.(2016) highlights the current advancements which are available to pregnant mothers which include: a)Rapid aneuploidy detection, this is found in developed countries and is used to identify any abnormalities with microscopically visible chromosomes including numerical or structural status, deletions, and duplications; b)prenatal ultrasound, this is performed during the second trimester and allows the physician to identifies any abnormalities in the fetus’ structure but also any other genetic disorders; c)genome-wide molecular testing, this type of testing detects any small interstitial or telomeric deletions or duplications and partial or uniparental disomy; and d)non-invasive prenatal diagnosis, this method is expected in the future to be used for screening pregnant mothers for aneuploidies including assisting high-risk families to know about any autosomal-dominant and autosomal recessive traits. Kelly and Farrimond (2012) further cement the possibility of a successful breakthrough after conducting a qualitative analysis which indicated that 63% of the participants were supportive of the non-invasive prenatal genetic diagnostic.
It is the parents’ rights to manage their social affairs including, terminating a pregnancy blighted with deformities. According to Parents and Asch( 2003), “using prenatal testing to prevent the birth of babies with disabilities seems self-evidently good to many people”( p.40).Therefore undertaking a prenatal genetic testing informs this type of decision and thus would-be parents should not be criticized for taking an action that would ensure their psychological and financial statuses are not undermined. Although they can decide to maintain the pregnancy and raise a child with a disability which members of disability groups believe is not a justifiable obstacle to not leading a healthy and fulfilling lifeParens & Asch, 2003).
Conclusively, prenatal genetic testing appears like a noble effort to ensure that pregnant mothers are well-informed beforehand and this helps them to be better prepared, psychologically and financially. Furthermore, factors like advanced age, advancements in genetic testing, and freedom to choose to downplay the opponents of this type of medical procedure. Thus prenatal testing not only gives leverage to pregnant mothers especially those who are high-risk cases but the ongoing advancements in science and technology gives ground to undertaking this kind of screening. Moreover, Schoonen et al. (2012), reports that 55.7% of women in the study carried indicated that they preferred a prenatal screening of Downs Syndrome before pregnancy, which is a good idea for those planning to be parents in the future.
References
De Jong, A., Dondorp, W. J., Frints, S. G., de Die-Smulders, C. E., & De Wert, G. M. (2011). Advances in prenatal screening: the ethical dimension. Nature Reviews Genetics, 12(9), 657-663.
Kelly, S. E., & Farrimond, H. R. (2012). Non-invasive prenatal genetic testing: a study of public attitudes. Public health genomics, 15(2), 73-81.
Mansfield, C., Hopfer, S., & Marteau, T. M. (1999). Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. Prenatal diagnosis, 19(9), 808-812.
Parens, E., & Asch, A. (2003). Disability rights critique of prenatal genetic testing: reflections and recommendations. Mental retardation and developmental disabilities research reviews, 9(1), 40-47.
Schoonen, M., van der Zee, B., Wildschut, H., de Beaufort, I., de Wert, G., de Koning, H., & Steegers, E. (2012). Informing on prenatal screening for Down syndrome prior to conception. An empirical and ethical perspective. American Journal of Medical Genetics Part A, 158(3), 485-497.
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