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On Prenatal Genetic Testing: Ethical and Moral Issues

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    On Prenatal Genetic Testing: Ethical and Moral Issues

    Prenatal genetic testing involves the analysis of DNA, RNA and chromosomes to be able to identify if there is a predisposition towards a genetic disorder, ascertain the possibility of carrying disease, and to project early on how best to take care of the child given these mitigating health circumstances. While it does not identify the abnormality with certainty, it does give indicators on whether further medical assessment is necessary. It is normally carried out through amniocentesis or CVS and the subsequent laboratory analysis of the sample gathered (Hudson, 2004). This paper contends that undergoing prenatal genetic testing in itself does not carry with it moral undertones. It is the decision of the parents about what to do with the outcomes of the procedure that carries moral weight. In effect, parents must use this procedure as a preparation for taking better care of a child who has a genetic abnormality, and not to abort the fetus (Hudson, 2004).

    There are several reasons which parents cite to justify their desire to undergo the procedure. These include the age of the mother, having a child who has a genetic disease, a chromosomal abnormality in either parent, or simply enhanced risk. These are all valid reasons for wanting to avail of prenatal genetic testing. Parents have every right to know about the condition of their unborn child – however, it is the purpose for which they are undergoing the procedure that makes all the difference. Thus, the counseling which follows the procedure is not prescriptive in nature. The decision on what to do with the outcomes of the tests is solely up to the parents’ moral discretion. While there is an implicit belief that the action steps carried out after prenatal genetic testing are left to the decision of parents, they may still feel pressure to heed what society perceives is socially acceptable, or even what their medical doctor recommends (Hudson, 2004).

    There are some considerations that must be made with the advancement in this area. Progress along this line may pressure would-be parents that it is a ‘responsible’ thing to do to be able to know everything about the genetics of their child. Moreover, while others perceive that genetic testing has tones of ostracism for children with genetic abnormalities, it may be seen from an opposite light. The availability of more technology that is able to detect increasing numbers of genetic abnormalities may make society more accepting of these conditions and thus be able to draft health strategies for parents to accord them better care. Health care providers who have the responsibility of orienting parents on the advantages and disadvantages of the procedure have the moral obligation to make themselves literate at this task. Because of the sensitivity inherent in the issue, they should be able to adequately educate parents so that they do not feel that it is compulsory. In effect, as our initial thesis goes, the decision to undergo prenatal genetic testing is neither positive nor negative. Parents have both the right to know and the right not to know about the genetics of their child. However, it is their intention of why they are willing to undergo the process which has a value judgment that goes with it (Hudson, 2004).

    While the benefits from the procedure seem apparent, not everyone is agreeable on the contention that it creates moral dilemmas. First, this group contends that while the procedure does provide critical genetic information, it is not without its constraints. Offhand, not all genetic abnormalities are detected through this procedure. Without this important capability, it has less premium as a predictive tool and this is where moral dilemmas come in for both doctors and their patients (Burke, 2004). For instance, a test on whether an unborn child is a CF carrier pinpoints couples who are both carriers; however, even as genetic testing indicates that the child has 2 CF mutations, it does not indicate the degree of severity of the condition in the fetus which is critical in the couple’s final decision (Medscape, 2007).

    Still on those who are against prenatal genetic testing is the fact that there is no law which regulates which traits may warrant the termination of an unborn child. Stoller (1997) shares that there must be a distinction made between therapeutic traits and non-therapeutic traits. Therapeutic traits are those which cause severe genetic abnormalities to the unborn child. Some others have interventions. Others may develop later on in life. On the other hand, non-therapeutic traits are those which do not have any bearing to the health of the person and encompass aesthetic traits, physical capacity, and genius or talent. While there are a substantial number of people who agree on the morality of abortions that are due to genetic abnormalities, not everyone shares consensus on minor defects and even on non-therapeutic traits. The latter is a very real possibility considering that there is no regulation that is specific to this issue. In effect, all that needs to be done is to find a doctor who consents and is willing to offer them the service. Because of this lack of legislation, the decision is made solely by the physician based on his own ethical principles and beliefs (Stoller, 1997).

    Doctors who are amenable to providing these services are classified as follows: 1) those who constrain prenatal genetic testing to those who are affected by severe diseases; 2) those who will offer pre-natal genetic screening for all but the most minor diseases; 3) those who will make pre-natal genetic screening available for all diseases except for therapeutic characteristics and (4) those who will honor pre-natal genetic testing for any trait (Norton, 1994).

    Other contentions against the use of prenatal genetic testing are the psychological trauma and the ostracism that may confront the parents (Harper et al, 2000). For instance, testing for Huntington’s disease, a cognitive abnormality which begins at the midlife is a concrete instance. Those who have parents who are inflicted with the condition have 50% probability of contracting the gene for the condition and if such a gene is detected, the individual will certainly suffer from it. The unfortunate reality is that there is no treatment available for it. For some, it helps to know the results of genetic testing to be able to plan for their families and their careers as well. However, some do not want to undergo the procedure for fear of being discriminated. For example, insurance and employment opportunities are limited once their genetic predispositions are made known. They are also less mobile in terms of transferring jobs since they do not want to lose their health insurance. This even goes to far as the patient himself not being open to his doctor because the results of the genetic testing may be divulged to the health care insurance provider (Harper et al, 2000; Williams et al, 1999). There are those that opt not to undergo prenatal genetic testing even if the odds are against them on suffering from HD – they would rather not suffer from being stigmatized and yet are accepting of their condition and that of the unborn child.

    This is just one end of the argument; others see the benefit of genetic testing for diseases in which there are interventions. For example, in the case of phenylketonuria which may be detected in expanded newborn screening, modifications on their diets allow substantial progress among those afflicted. Contemporary new born screening technology, particularly tandem mass spectrometry has the capacity of detecting as many as 20 various genetic abnormalities. Thus, we are faced with the question of whether to have prenatal genetic testing for these conditions which do not have interventions such as those available for PKU. The moral answer stems from the principle of Beneficence in which the procedure is deemed acceptable and morally upright if used for the purposes of treatment or prevention of the disease. For parents of the unborn child, this means being able to respond to the needs of the child once he is born. In other words, while there is no intervention available for some diseases, the fact that the parents have chosen to carry on with the pregnancy means that their initial intention for prenatal genetic screening was not to terminate pregnancy but instead be adequately prepared for their child – whether there is or there is not medical intervention available for his genetic condition (Medscape, 2007).

    In fact, one area which is progressing within the realm of genetic testing is precisely the detection of diseases to be able to intervene early on or arrest the condition if at all possible. For instance, there are available tests for the detection of hereditary breast and ovarian cancer. Clearly, this has benefits for those who are predisposed to contracting these conditions. In this case, since genetic testing may project the degree of risk involved with the disease, the appropriate preventive measures may be carried out for high risk patients. It is again left to the sole discretion of the individual on whether she chooses breast or ovarian removal to avoid the serious risk (Medscape, 2007).

    While there are critics to the procedure, highly respected entities such as the World Health Organization and the UNESCO have espoused the use of genetic testing. But they have laid down very clear ethical boundaries for the ethical use of the procedure. While they do promote its utilization, the bottom lines of dignity and respect for human life must be upheld at all times. There are certain principles of ethics on the use of genetic data (Nagwa, 2006).

    First, is the principle of Beneficence in which testing among kin suffering from heart disease, cancer and similar conditions that are traced through one’s genes is deemed acceptable for as long as it would be utilized for the purpose of treating or evading the condition.  The second principle of Justice holds that prenatal testing which is for the purpose of relieving the mother of anxiety must have less importance than those which are carried out because of clear signals or indicators. The third principle, Autonomy, upholds the right of the husband and wife to make the final decision on the fetus and this choice ought to be respected. They are the ones to decide whether the condition warrants fetal testing or the termination of the pregnancy and their decision should be entirely out of their own volition. Moreover, with the principle of Non-maleficence, prenatal diagnosis ought to be carried out only to be aware of the fetal health and not for the purpose of paternity testing which is not encouraged. Still in accordance with this principle, human diversity and minority views must be acknowledged. In effect, there should be acceptance of genetic abnormalities rather than using the procedure to get rid of an unborn child with a disease (Nagwa, 2006).

    One very critical moral issue in prenatal genetic testing is that of post-viability abortion. There are some states where this has been permitted provided that the doctor provides a certification attesting that the pregnancy puts the life of the mother or of the fetus in jeopardy. To date, however, no legislation clearly spells out the legality of a post-viability abortion that is an outcome of prenatal genetic screening (Stoller, 1997).

    Those laws that consider fetal health do not touch on the issue of quality of life once the mother makes the decision of pursuing the pregnancy. A clear example is Trisomy 21, ore commonly known as Down’s syndrome. While the child may be born healthy, the quality of life which he may have is put into question. Viability becomes very tricky in such a case. By law, a woman is permitted to have an abortion for a child with the disease before, but not after viability. In this case, quality of life is not a consideration (Stoller, 1997).

    The primary task is for laws to be reviewed, addressing the issues of post-viability abortions with ample consideration of fetal health and quality of life. Thus, prenatal genetic screening must not be used as a reason for undertaking a post-viability abortion grounded on trifling grounds. For this to be possible, states ought to be very prudent at giving definitions to key terms involved in the issue, including the definitions of genetic defect and fetal abnormality, among others. Thus, prenatal genetic testing ought to be used as a tool for preparing for the care of the unborn child which may possibly suffer from a disease. It is left to the option of the parent to carry the pregnancy to term if the disease is fatal and untreatable; this freedom is provided for by law in the woman’s right to procreate. However, the grounds for seeking an abortion must be very clear especially on the issue of post-viability abortion following the results of prenatal genetic testing (Stoller, 1997).


    Given the moral dilemmas that are presented by prenatal genetic testing, there must be state legislature that must uphold ethical decisions related to this issue. (Source 4) states that there must be a need to review laws given the option of a post-viability abortion, considering that the woman has the right to terminate an unborn child. Along this line, Brennan states that “if the right of privacy means anything, it is the right of the individual, married or single, to be free from unwarranted governmental intrusion into matters so fundamentally affecting a person as the decision whether to bear or beget a child.”(Brennan in Stoller, 1997). Clearly, this argument shows that the state acknowledges the woman’s right to avail of an abortion under her right to procreate. This has been critical in the acknowledgment of a woman’s right to abort her unborn child.

    While the right of the women to procreate is unquestioned, there are subtleties that need to be addressed such as post-viability options following prenatal genetic testing. One other alternative that states may consider is regulating the use of the procedure, while at the same time still guaranteeing the individual’s basic rights.

    The wide array of alternatives indicate that there are several options that a doctor may opt to recommend to the couple seeking medical advice. In effect, the couple may find a doctor who is willing to compromise values and ethics for personal gain. Worse, the couple may go out of their way just to find that doctor so that they may carry out their agenda of terminating the pregnancy without hassle. The lack of clear legislature along this line makes matters more difficult. The role of the physician must not be prescriptive. While this is the case, it seems not plausible for the doctor not to give a recommendation when his advice precisely influences – limits – the couple’s options.

    At the end of scientific and medical communities, they should do their share in addressing the issue through the regulation of the procedure, including the role of the counselor and the doctor who gives advice to couples. Repercussions of imprecise medical advice may lead to sex selection, ostracism, and even eugenics. There must be professional regulation of this procedure so that there is consensus on its mechanics, ensuring that these are morally upright apart from being legally compliant. Legislature is one part of the issue, morality and ethics is another. It would be ideal if state health legislature is supportive of moral and ethical decisions, precisely by setting these boundaries within the law.


    Burke, W. (2004). Genetic testing. In Guttmacher, A.E., Collins, F.S., Drazen, J.M. Genomic medicine. Baltimore (MD): Johns Hopkins University Press, 14 -27.

    Harper, P.S., Lim, C., & Craufurd, D. (2000). Ten years of presymptomatic testing for Huntington’s disease: The experience of the UK Huntington’s Disease Prediction Consortium. Journal of Medical Genetics, 37, 567-71.

    Hudson, K. (2004). Prenatal genetic testing technology: Science, policy and ethics. Genetics and Public Policy Center: Johns Hopkins University.

    Nagwa, A. (2006). The ethics of genetic testing and information. Retrieved on April 17, 2007 from

    Norton, V. (1994). Comment, unnatural selection: Nontherapeutic preimplantation genetic screening and proposed regulation, UCLA Law Review, 41, 1581.

    Stoller, D. (1997). Prenatal genetic screening: The enigma of selective abortion. Journal of Law and Selective Abortion, 12(1), 121-140.

    Williams, J.K., Schutte, D.L., Evers, C., & Forcucci, C. (1999). Adults seeking presymptomatic gene testing for Huntington Disease. Journal of Nursing Scholarship, 31, 109 -14.


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