Prenatal Genetic Screening Research Paper

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This research paper focuses on the ethical issues of prenatal genetic screening. Genetic screening is a generic term that refers to a set of diagnostic techniques for sample collection and analysis with the aim of detecting fetal anomalies in utero. These different methods will be briefly described and assessed in terms of their ethical aspects. As one of the basic outcomes of prenatal screening is to offer parents a termination of pregnancy in case of a diseased fetus, and also because the sociocultural consequences of prenatal diagnostic technologies are highly controversial, the entry also briefly touches upon debates that relate to disability rights, eugenics, and geneticization.


Prenatal screening occurs in the first and second trimester of pregnancy usually aiming at risk assessment for common aneuploidies and fetal abnormalities. Traditionally, the aim of prenatal screening was to detect Down syndrome, but other chromosome abnormalities including neural tube defects (such as spina bifida), cleft palate, sickle cell anemia, thalassemia, cystic fibrosis, fragile X syndrome, Tay Sachs disease, and muscular dystrophy have increasingly entered into the purview of prenatal genetic screening. This has been made feasible with the advent of new genetic technologies that allow a wider set of genetically influenced conditions to be detected on the DNA level. This has likewise shaped the ethically relevant issues that have been connected with prenatal screening.

Some of the ethical issues and their background debates are more or less settled, but new issues are coming up at the horizon. There were some technological advances and some changes in the screening strategies that still have an ongoing effect on the ethical landscape of prenatal genetic screening. The rapid advances in ultrasound diagnostics, the further development of molecular techniques, and the pending introduction of noninvasive prenatal diagnosis are all transforming the ethically relevant issues. Some might argue that the dynamics of these developments could even challenge the existing normative framework (Dondorp and van Lith 2014).

Usually the ethical issues are interpreted within the doctor–patient fiduciary relationship, so the normative framework refers to the basic principles of biomedical ethics including autonomy, beneficence, nonmaleficence, justice, and some more specific norms like proportionality and equity of access. Within this framework, the explicit aim of prenatal screening services should be to enable parents to make meaningful reproductive choices or in case of testing for fetal abnormalities to avoid children with serious disorder or disability (de Jong, et al. 2011). As prenatal screening creates the potential for selective abortion – which is a highly sensitive moral issue in several countries – this constitutes the major ethical issue. However, disability rights activists also perceive the very aim of prenatal screening services as highly troublesome and having discriminatory effects because it reinforces the idea that life with disability is something negative that can/should be avoided. The global usage of prenatal screening is low, but increasing. Prenatal screening is frequently used in the developed world, and it is either offered as a market-driven commodity (United States) or as part of public health initiatives (Europe, Canada, and Australia).

Conceptual Clarification: Screening Techniques And Methods

It needs to be mentioned that some authors differentiate between prenatal screening, testing, and diagnosis. For them, the term prenatal screening entails the whole testing process that is offered to pregnant women; prenatal diagnosis refers to follow-up testing, while prenatal testing constitutes a generic term. In this research paper, genetic screening, testing, and also prenatal genetic diagnosis (PND) will be used interchangeably.

In the medical literature, the term screening is frequently used to refer to a public health diagnostic intervention for detecting disorders that have a relatively high prevalence in order to provide early treatment options. Prenatal screening programs however differ, ethically from traditional forms of population screening programs because the needs of individual patients (e.g., whether or not they want to abort or keep a genetically “sick” baby) are central as opposed to societal needs (as obtained in typical public health scenarios). During prenatal genetic screening, a set of diagnostic techniques are used which parallel three options. These are medical ultrasound devices (which provide clearer real-time pictures about the bodily outlook of the fetus), invasive techniques (which acquire a sample of amniotic fluid or a tissue sample from precursors of the placenta which then can be used for diagnosis by a variety of analytic methods including karyotyping), and noninvasive tests (which acquire fetal DNA from a simple blood sample taken from the pregnant woman and is analyzed using molecular biological techniques).

Each diagnostic method differs in context, applications, and associated risks. For instance, amniocentesis was developed for detecting Down syndrome for women with advanced maternal age, especially those over age 35. Chorionic villus sampling (CVS) is used in the cases of highrisk pregnancies, assessed on family history of genetic disorder, first trimester screen results or abnormal ultrasound findings, and maternal age. Its risks include miscarriage, amniotic fluid leakage, and infection. Compared to amniocentesis, it is regarded as advantageous, because it can be performed earlier in pregnancy and also because of the shorter waiting period for results. Prenatal ultrasound is usually done in the second trimester of pregnancies that might have a wide range of possible outcomes. These scans can indicate structural defects with different severities or unknown clinical consequences and can also reveal “soft-markers” that show a risk of a wide range of genetic disorders. These findings usually require further diagnostic procedures and more detailed screening. Lastly, noninvasive prenatal testing (NIPD) is an emerging technology in which the so-called cell-free fetal DNA/RNA is obtained from the pregnant woman’s blood as early as 4 weeks of gestation.

From a global perspective, it should be noted that the issues concerning prenatal genetic diagnosis will differ across countries and continents due to factors including cultural nuances, technological accessibility, and legal norms.

Ethical Dimensions

In some EU countries with a stronger catholic tradition where elective abortions are restricted, PND and screening are more restricted. Elsewhere, screening programs are more established and more frequently used. There are some data that in countries of emerging economies, like India and China, the middle classes have already adopted some of these technologies; for example, ultrasound scans are widely available and used for the identification of disabilities and also for sex selection, especially in India (Crawford 2012). The use of PND for sex selection is however prohibited in Europe and a significant number of other Western countries, with the exception of serious genetic diseases.

In those countries where prenatal screening practices are widely available, there has been an emerging standard and an internationally acknowledged normative framework for the provision of prenatal genetic screening. Basically, this framework refers to widely used principles and norms of health-care ethics like nonmaleficence, respect for persons, beneficence, justice, equity of access, proportionality, and informed consent. Although the explicit aim of prenatal genetic testing is to provide pregnant women with meaningful reproductive choices, this framework sees informed consent as a necessary but not sufficient condition.

One of the basic principles of biomedical ethics, respects for persons, requires to treat human beings as autonomous moral subjects (Beauchamp and Childress 2013). This principle demands that decision making regarding participation in the screening process – at all stages of offering various testing and diagnostic services to the clients – must be based on a proper informed consent, on adequate information, and voluntariness. According to the principle of beneficence and nonmaleficence, it is important to clearly assess the potential benefits and harms of the testing procedures. The provision of testing is only justified if the potential benefits for clients clearly outweigh the risks and burdens of testing. According to the principle of justice, prenatal genetic screening programs should be embedded in health-care services in a way that equity of access is ensured. These programs should be based on the fair distribution of benefits, burdens, and resources. As one might observe, the above sketched generic ethical framework for genetic screening services could be derived from the more general set of principles for population screening as well. However, the current biomedical limitation (in terms of treatment options or prevention of diseases screened via prenatal genetic screening) makes fetal abortion an only option and shapes the extent to which PND allows clients to make meaningful reproductive choices. Against this background, the more specific aspects of the ethical issues associated with PND will now be briefly addressed.

Meaningful Reproductive Choice

Most countries offering prenatal genetic testing and screening services have formulated the requirement that the test results should be provided to the patient by an expert genetic counselor. To be sure, genetic counseling is also stipulated to precede testing to ensure that both the potential test results and their clinical consequences should be clearly explained in a plain language in order to facilitate informed choice. Counseling should be nondirective and supportive to provide the pregnant woman with opportunities for meaningful reproductive choice. Beyond the main content of informed consent in the case of ordinary medical procedures, the counseling process in genetic screenings is guided by the idea that screening results might yield new information that could force some into uneasy decisional situations (about marriage, adoption, abortion). One of the major challenges of counseling and informed consent in such a setting comes from the great variety of tests, findings, and further testing that may follow. Moreover, as a consequence of the “right not to know” women should be given the opportunity to indicate which specific outcomes they do not want to be informed about.

There is considerable agreement on the abovementioned ethical requirements as these are embedded in professional guidelines and recommendations, like the Nuffield Council’s report on Genetic Screening (1996), or in the position statement of the International Society of Prenatal Diagnosis (2013). The online database of the Geneva Foundation for Medical Education and Research contains a global list of recommendations and guidelines related to the ethics of prenatal genetic screening (Geneva Foundation for Medical Education and Research).

In order to facilitate meaningful informed choice, some have argued for filtering out all “irrelevant” information and focusing on the most important and significant findings of the tests. It has also been argued that it would be more feasible to follow a generic consent model in genetic screening. This generic consent would be similar and might be compared to obtaining consent to perform a physical examination, where one finding might generate other necessary diagnostic procedures that also might generate additional follow-up and also some difficult choices that were not foreseeable.

Another challenge is the uncertainty of the findings, especially when the results are presented in statistical terms of likelihoods, chances, and probabilities. Except from some cases where the results are quite clearly indicating a certain clinical consequence for the future child, most findings are not having such strong predictive value. Some empirical literature already shows that both doctors and patients can be generally regarded as statistically illiterate. This certainly indicates that interpreting and communicating the results of the emerging new testing services will further complicate the process of reaching meaningful reproductive choices (Sivell et al. 2008). In this regard, risk communication experts offer some insights on how to communicate difficult statistical information. Two of their recommendations are certainly relevant in the context of genetic counseling. One is related to the use of decision aids, especially illustrations and pictures, while the other is the use of natural frequencies (3 persons from 100 persons) instead of probabilities [3 %] (Gigerenzer 2002).

According to one of the systematic empirical studies conducted in Australia, 31 % of the study participants did not know that miscarriage was a possible consequence of diagnostic testing subsequent to an increased risk of screening result, and only 62 % correctly identified that the termination of pregnancy would be offered if Down syndrome were to be diagnosed. These and other studies also suggest that we are still quite far from the ideal of meaningful reproductive choice (Green et al. 2004). In an ideal scenario, the pregnant woman receiving pretest counseling would be “left alone” to make her decision whether to undergo screening or take a specific test. Some have argued that this scenario is very unlikely because of the emergence (in the western context particularly) of wrongful life/ birth lawsuits as doctors are increasingly interested in obtaining their clients acceptance to undergo genetic screening. Clinicians might be worried that even if the woman does not wish for screening now, in the future she might argue that she would have wanted it, a possibility which might make such doctors liable. Such incentives could ultimately interfere with both the process of informed choice and nondirectiveness as doctors tend to be more persuasive.

Reassurance Or Anxiety

In most developed countries, prenatal screening is offered not just to “high-risk women,” but to “low-risk women” as well. As a result, most pregnant women will undergo some forms of diagnostic techniques, which have certainly transformed the experience of pregnancy in these countries. Because the proper clinical assessment of test results might take days or weeks, pregnant women could experience significant anxiety. Indeed, it is not an exceptional scenario for some women to go through a waiting period for a result that necessitates testing for another condition that initiates another waiting period. On the other hand, some literature focusing on the psychological effects of the screening process have emphasized the positive phenomena of reassurance that pregnant women could experience when receiving favorable diagnostic results (Green et al. 2004).

Equity Of Access And Proportionality

In some countries, the access to prenatal screening or a specific diagnostic test will depend on the woman’s risk status. Risk status is mainly determined in relation to a specific condition (like Down syndrome, sickle cell trait, Tay Sachs, cystic fibrosis) on the basis of ethnic origin, known family background of a genetic condition, and on maternal age. In the case of high-risk women, prenatal screening could be offered that involve the use of various tests and a given follow-up trajectory. This approach leads to more undetected Down syndrome pregnancies in cases of younger women. On the other hand, there is an emerging trend that women bear children at later ages. This has not been limited to developed countries but increasingly occurs in developing nations due to factors including career and educational needs which tend to foster late marriages. This social change creates a significant increase in the number of amniocentesis performed, an increase in the rates of procedure related to miscarriages and a concomitant rise in the economic costs of testing. Moreover, if the access to prenatal screening services is determined by the age of the woman, then it could create an unacceptable form of health-care rationing.


There are some overreaching ethical issues that concern the overall project of prenatal diagnostic services. One such issue relates to the geneticization thesis. This is a social theoretical concept that basically claims that as a result of the emergence of the new genetics and the concomitant technological developments, contemporary societies are increasingly relying on genetic information. According to this view, the introduction of new genetic test and the emergence of genetic services foster a gradual shift from our more complex bio psychosocial view of human life to one in which differences among individuals would be increasingly reduced to their genetic characteristics.

In the context of genetic testing, this means, for example, a change in how we as society evaluate the role of genes in human life and development. This has an overall effect of how the social context of prenatal genetic testing is constructed, and more precisely how the setting for individual autonomous choice is constructed. As Lippman argued, the claim that women themselves need or choose prenatal screening is something constructed by the context of testing (Lippman 1991). The current context of prenatal tests therefore increasingly portrays screening services as being a normal part of routine care and reinforces the idea that to opt for screening is the responsible course of action.

Disability Rights Critique

To be born with a certain disability probably appears bad to most people, especially for people who have been raised around “normal” people of their kind. Consequently, to prevent the birth of a disabled child will be considered good by most people. In the light of PND, it would thus be good to offer prospective parents the possibility of not giving birth to a nondisabled child (by eliminating potentially disabled ones in utero). Scholars supporting the disability rights movement however view the entire project of genetic screening differently. This difference should be approached by the background understanding of the concept of disability. Criticizing the widely shared medical model of disability that rests on the representation of disabilities as departures from species typical functioning, they emphasize the social construction of disability. This social model of disability asserts that the opportunities lost to impaired people come from environmental design, not from biology itself (Wasserman et al. 2005).

According to their critical perspective, the entire project of prenatal genetic testing and the accompanying selective abortion based on disability is dangerous. The supporting argumentation usually rests on three claims. The first two holds that selective abortion based on prenatal testing is morally problematic. The third suggests ways on how this practice is driven by misinformation regarding disability. The claim that selective abortion is morally problematic can be supported by two arguments. The so-called expressivist argument focuses on the fact that discriminatory attitudes against disabled people are expressed by the practice. The parental attitude argument claims that using prenatal tests to select against some traits indicates a problematic conception regarding parenthood. The expressivist argument have been criticized on several grounds, basically with reference to the diversity of potential parental intentions to abort a fetus that certainly does not have an intent to send a message or express their views on disability or hurt the dignity of disabled people. One might decide for abortion based on the prenatal genetic test result because she feels that her own life will be significantly compromised. The parental attitude argument rests on the idea that parents can guarantee or create perfection for their children. If parents would have a genuine understanding of what they should seek in parenting, then they would see the particular traits of their children as relatively unimportant. Additionally, they would see the disabled trait of their children as relatively unimportant and leave behind the “selective mentality” that focuses on some specific traits.

Modern societies have a rather bad record of pervasive discrimination against people with disabilities. Although, some might refer to laws and regulations prohibiting or ameliorating discrimination based on disability, there still exists some misinformation and stereotypic thinking regarding what it means to be disabled for individuals and families. There are many widely shared beliefs and perspectives regarding the quality and overall experience of what life with disability is for children and their families. However, these views are not evidence based but anecdotal, and most of them fall into the category of prejudices. Some studies suggest that many members of the health professions view childhood disability as predominantly negative for children and also for their families. These results can be sharply contrasted with the findings on the life satisfaction of people with disabilities and their families.


The question of eugenics is a central issue in discourses assessing the ethical and social impact of developments of genetics, especially on issues related to genetic testing. At the heart of these discussions is the explicit fear that there will be social return or a “backdoor to eugenics” (Duster 2003). Some even regard the contemporary human genetic practices as a continuation of population policies of the early twentieth century, social cleansing and racist programs. Modern definitions of eugenics are varying, like the concern with the genetic improvement of mankind, the attempt to improve the population through selective breeding, or the promotion of reproductive options favoring desired human genetic traits, and attempts to improve hereditary qualities through selective breeding. Although such definitions will incorporate genetics, they might also involve ordinary acts of human reproduction.

Some critical arguments against policies that promote the widespread use of prenatal genetic screening are referring to such practices are eugenic. But what is eugenics and when can we rightly make the claim that something is eugenic? For many, the eugenic attribute has a stigmatizing effect as it attempts to judge a practice as morally wrong. But on what conditions can such an evaluation be justified? Eugenics has been described as a social movement, as a scientific ideal, as a set of practices, as a doctrine, or as an ideal. Looking beyond the British, the American and the German “versions” of the eugenics movement and the politics of racial hygiene, the eugenics idea has a very diverse history that resulted in very different consequences worldwide. The contemporary uses of eugenics in bioethical and policy discussions are also rather diverse and usually very obscure. As one scholar observed, eugenics is a word with nasty connotations but an indeterminate meaning (Paul 1998). Some would consider a practice as eugenic if it has the intention to improve the gene pool of society, but for others even unintended consequences might imply that a practice is eugenic. Others would argue that it is not the goal of eugenics (which is to improve the health of the population) that is really problematic but the means (like coercive sterilization) to achieve those goals. Against the eugenics conceptual background, the morality of prenatal genetic screening clearly suggests some measure of caution.

Future Challenges: Noninvasive Prenatal Diagnosis (NIPD)

Identified in the maternal blood in 1997, cell-free fetal DNA (cffDNA) offers another avenue for genetic diagnosis of the fetus. While there is still a need for larger validation studies to be conducted for a variety of uses, some studies already demonstrated that with the NIPD using cffDNA, the whole genome of the fetus can be sequenced and analyzed. This raises the possibility that in the not too distant future samples for testing might be available for any risk factors and mutations in a simple, noninvasive way. This future scenario certainly poses a further challenge on the established justification of prenatal screening programs that emphasize meaningful reproductive choice (Dondorp and van Lith 2014).


In most developed countries, prenatal screening for fetal abnormalities is offered as part of publicly funded public health programs. However, these programs are not aimed at prevention of disease, or reducing the disease burden in society as in other screening programs. Except in a few cases, where therapy is available and feasible, usually the clinical consequence of prenatal testing is abortion of the fetus with a genetic condition. Prenatal genetic screening programs aims at enabling couples make meaningful autonomous reproductive choice. This paradigm of autonomous choice is reflected in the relevant guidelines and professional society’s recommendations stressing nondirectivity in genetic counseling and the significance of balanced information provision. Screening should be presented as an option while avoiding direct suggestions that women should take the test and how to proceed after the test results. This paradigm of autonomous choice – as being the paradigm of prenatal screening programs – attempts to avoid the charges of trivializing abortion decisions, of being discriminatory against the disabled, and opening a backdoor to eugenics. This is a substantial challenge on the current practice of prenatal screening, because as a response it should prove that as an aim for the program, individual autonomous choice is present in all dimensions of the practice: in the way prenatal screening is presented, offered to pregnant women, organized, and evaluated. In the final analysis, there is a significant discrepancy between the stated aims of PND and the clinical reality, which leaves the ethical framework open to future criticisms and modifications.

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