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While speaking of prenatal testing (PT), it is important to take into consideration both biological and ethical issues associated with it because the prenatal diagnosis is primarily associated with the prevention of birth of a child with a genetic disorder rather than the treatment of the identified disease. At the current stage of PT’s development, the early identification of all chromosome disorders, and the majority of congenital malformations becomes possible.
While the non-invasive PT techniques, such as ultrasound, could help to predict genetic disorders in the fetus with less amount of precision, the prenatal DNA diagnosis received through analysis of maternal blood sample is a new high-tech method characterized as the most informative and accurate technique for the identification of different developmental pathologies.
The given non-invasive PT is based on the analysis of “cell-free foetal DNA/RNA,” which are present in the maternal blood after several weeks of gestation (De Jong et al., 2010, p. 272). The amount of fetal DNA in blood is relatively high, and it thus can be easily isolated. Moreover, the fetal DNA components circulating in the maternal blood have the similar diagnostic value as the fetal cellular DNA.
The accumulated fragments of cell-free DNA are evaluated by using sequencing methods and proceeding the test results through the mathematical algorithms (Women’s Health and Education Center, 2014). As a result, the diagnosis based on the data collected through the maternal blood test is credible and accurate. It was observed that the cell-free DNA test is very effective in the identification of Down’s syndrome and Edwards’ syndrome.
Along with the high rates of accuracy, the main advantage of the given PT method is its safety. In contrast to the invasive testing techniques, such as amniocentesis or biopsy, the non-invasive PT uses maternal blood as the main material for the assessment. The invasive PTs are associated with different complications, including the threat of miscarriage, and the implementation of invasive procedures involves anesthesia and hospitalization. At the same time, the collection of the sample in the non-invasive DNA test is very simple, and the threats of harm to a mother or the fetus are thus reduced to a minimum – there is no significant physical discomfort or anxiety (Deans, Hill, Chitty, & Celine, 2013).
Another advantage of the non-invasive PT is the opportunity to establish diagnosis at the early stages of the infant’s development. Comparing to the invasive PTs, which can be conducted only throughout the mature gestational age, the cell-free DNA analysis can be conducted at the 11th week of gestation (De Jong et al., 2010).
Impacts on Families and Society
Every married couple wants to have healthy children, and the health issues at the early stage of the infant’s development become especially significant after the birth. In many developed countries, the number of children in families decreases, and the positive pregnancy outcomes thus obtain greater value.
The development of genetic disorders has many social, medical, economic, and psychological implications for the families. First of all, some congenital disorders require constant medical supervision throughout the life span of an exposed individual. The diagnosis made at the prenatal stage of development may allow the physicians to implement the intervention practices that can help to minimize adverse outcomes and prevent the development of the curable disorders in a timely manner.
From the social viewpoint, a high rate of disability among the population with the genetic and congenital disorders involves a high level of economic expenses. The diagnosed individuals often cannot care for themselves and their social functioning is impaired. Although the majority of the genetic disorders are associated with a short lifetime and a large percentage of the disabled children die early, it is important to provide them with a good quality of life, the appropriate treatment, and care.
While some children with the genetic disorders can be supported by their families, many abandoned disabled children live in the specialized orphanages. However, care for a disabled person relates to the exorbitant financial costs for both families and organizations. In this way, the non-invasive PT, early diagnosis, and intervention may help to decrease the financial burden connected to the necessity for the medical services and treatment.
As an “easy and safe testing,” the non-invasive PT may become a norm, and the researchers suggest that the “normalization” of PT may lead to the expansion of developmental abnormalities included in the analysis (De Jong et al., 2010, p. 272). When the provided information is based on the results of an accurate PT, a pregnant woman may become more inclined to the pregnancy termination. And thus, in case the fetus DNA testing will become a regular procedure, the number of abortions may increase.
The selective abortion is an essential ethical issue in the prenatal diagnosis and assessment. The parents of a child, who doesn’t comply with the level of health which is perceived as a norm, may decide to deprive him/her of an opportunity to live in order to get rid of the burdens associated with the care of a disabled child. However, it is possible to say that this ethical problem has a broader scale because it demonstrates the manner of social relation to the disabled and ill people.
The people with disabilities or terminal illnesses are often perceived as the burden for the society. However, the ethical principles state that every diverse person has a right to a high quality of life, and respect for his/her individuality and dignity. The disabled people constitute a significant part of the diverse society, and they should be accepted and provided with the equal opportunities.
Consideration of the cultural and ethnic backgrounds of the patients may significantly increase the efficiency of communication and treatment. Each individual is influenced by his/her social and cultural experiences which play a role in the formation of the personal values, beliefs, and knowledge. In psychological counseling, the consideration of cultural aspects of a patient’s identity may allow a specialist to achieve greater risk perception and stimulate the patients for the engagement in the preventive health practices. The cultural sensitivity may help to predict the clients’ reaction to the suggested methods of treatment and assessment and, in this way, it can help to avoid miscommunication and a threat of unintentional disrespect towards the personal values of the diverse people.
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It is observed that in prenatal and genetic counseling, the religious and cultural beliefs of a woman may become a source of psychological comfort and validation of the prenatal diagnosis decision-making (Warren, 2011). To increase mutual understanding, through the dialogue with a patient, a psychologist should identify the individual sources of psychological support as well as the gaps in the medical knowledge, health care beliefs and other multicultural factors that may directly or indirectly affect the prenatal decision-making.
At the same time, it is important to remember that a patient’s decision should be autonomous, and the psychologist should not influence it in any way. The main task of a counselor is the provision of the necessary information while taking into consideration the individual preferences and characteristics. In this way, by informing a patient, it is possible to facilitate the prenatal decision-making for a woman and her family and reduce the psychological discomfort associated with the prenatal diagnosis.
De Jong, A., Dondorp, W. J., De Die-Smulders, C., Frints, S., & De Wert, G. (2010). Non-invasive prenatal testing: Ethical issues explored.European Journal of Human Genetics: EJHG, 18(3), 272-7. Web.
Deans, Z., Hill, M., Chitty, L. S., & Lewis, C. (2013). Non-invasive prenatal testing for single gene disorders: Exploring the ethics. European Journal of Human Genetics, 21(7), 713-8. Web.
Warren, N. S. (2011). Introduction to the special issue: Toward diversity and cultural competence in genetic counseling. Journal of Genetic Counseling, 20(6), 543-6. Web.
Women’s Health and Education Cener. (2014). Non-invasive prenatal genetic testing for fetal anomalies. Web.