To diagnose, in fact, means to recognize from instrumental investigations of laboratory the conditions of the human organism and such knowledge serves for the better health and life of the person. Diagnosis in medicine by itself does not raise any ethical problems. The very nature of diagnosis in medicine and its use in medical field are elements enough to legitimate it under the moral profile. When diagnosis has crossed the threshold of the mystery of the birth and has reached, in precocious phases the baby in the womb of its mother, it is found more and more loaded with moral issues; certainly not as diagnosis, but from the point of view of its utility for the good of the unborn. In this presentation we try to analyse the ethical issues in prenatal diagnosis.
1. Prenatal Diagnosis Biomedical data
The term prenatal diagnosis refers broadly to a number of different techniques and procedures that can be performed during a pregnancy to provide information about the health and conditions of a developing fetus. The tests are designed to identify the presence of specific conditions or abnormalities, and the absence of such specific conditions does not necessarily suggest the overall health of the baby.[1] Screening tests indicate whether the fetus has an average, greater than average, or below average risk of being affected by a particular genetic condition or birth defect. When the result of a screening shows increased risk, the pregnant patient may be offered other diagnostic tests to confirm whether the fetus is, in fact, affected. Diagnostic tests may also be offered directly to women whose pregnancies are considered high risk because of age, family history or other factors.
Prenatal Diagnosis is helpful for:
· Managing the remaining weeks of the pregnancy
· Determining the outcome of the pregnancy
· Planning for possible complications with the birth process
· Planning for problems that may occur in the newborn infant
· Deciding whether to continue the pregnancy · Finding conditions that may affect future pregnancies 2. Scope and Risks of Prenatal Diagnosis
Nature is not perfect. Natural selection is propelled by errors which are part of the given natural order. While one could question whether it is worth having prenatal tests for defects for which a cure is not yet available, that is only known after the test. In the meantime valuable information may be gained for the benefit of the mother and her fetus. Pregnant women have a right to seek accurate information on the state of the health of their fetuses for reassurance.
2.1 Scope of Prenatal Diagnosis
The results of prenatal tests reduce the anxiety and fears of most pregnant women and this is also a benefit for the fetus.[2] If an untreatable defect is detected the parents, with appropriate genetic and pastoral counselling, may be able to prepare themselves mentally for the birth of a disabled baby. Prenatal information may also be of benefit to obstetricians for the better management of the pregnancy, and the prevention of an unnecessary caesarean delivery. It provides an indication for specialist neonatal staff to be at hand in case of need after birth.
Prenatal diagnosis, by itself, helps to know with major certainty the condition of the embryo or the fetus. This allows, for example, in the case in which its parents have already had a child affected from serious pathologies to reassure themselves that the fetus is healthy. According to Tettamanzi, in this situation “the diagnosis can really avoid an abortion”[3]. In the case in which the examination reveals some pathology or malformation, the diagnostic report allows the parents to get themselves ready to welcome in an adequate way the new life. Unless certain fetal defects are specifically sought, routine prenatal diagnosis does not usually provide information that could lead to fetal therapy. But it can give information that may help provide medication or therapies for the benefit of some fetuses, with the exception of chromosomal and neural tube defects.[4] It is possible to provide fetal therapies for a few conditions discovered by amniocentesis. It enables an evaluation of pulmonary maturity, fetal hemolysis and anemia for therapy in utero. Fetal conditions such as anemia or Rh incompatibility can be treated by intrauterine blood transfusions. Some anatomical and developmental fetal defects can be treated by drugs or repaired by fetal surgery. Better detection rates of treatable abnormalities could lead to fewer neonatal deaths by means of appropriate fetal therapy.[5]
2.2 Risks Involved in Prenatal Diagnosis
Genetic service, like most medical services, affects people profoundly as individual. But they also affect people as couples and as parents of children. There are physical risks involved in the process of prenatal diagnosis. Sampling blood from the fetus in utero through fetoscopy, one of the first means of prenatal tests developed for fetuses is associated with a 3-6 percent risk of fetal death. Amniocentesis causes spontaneous abortions in approximately one to two in every 1000 pregnancies. Chorionic Villus Sampling (CVS) is associated with a spontaneous abortion rate of about 3.6 percent. In addition, CVS in early pregnancy presents a risk of limb deformities in approximately 1 in 3000 cases. These procedures entail physical risks to pregnant women as well, particularly risks of infection. Physical risks involved in other methods are comparatively lesser.[6] The use of prenatal screening changes pregnant woman’s relationship with the fetus. The existence of prenatal testing may be turning women’s perception of pregnancy from that of a normal, healthy experience in to a pathological condition. Even though only a small fraction of women learn that they are carrying a fetus with a genetic abnormality, they think of their pregnancies are being at risk. The normal relation of the mother with fetus in the womb is delayed until they learn the result of the testing. The feelings of the mother will affect the fetus in the womb. The result either positive or negative can create difficult situations for the couples in making decisions about the future proceedings.[7] Women may also feel guilty when they carry an affected pregnancy to term. This is particularly true in the case of mothers who already have children with a genetic disorder and who give birth to other children with the same disorder; the offer of genetic testing itself implies a tacit recommendation to abort. Women who learn that their fetus has a genetic mutation may feel compelled to abort. And they often feel guilty for the act committed and express anxiety over whether to conceive again. They fear that friends and relatives will judge them too harshly for aborting. A woman’s perception of herself may change after such an abortion, causing her to feel like an agent of quality control in the process of reproduction.[8] Women who terminate pregnancies in the second trimester after prenatal diagnosis suffer psychological traumas. In some instances their grief may be even more pronounced, since the ultrasound image that accompanies prenatal diagnosis may create an even greater emotional bond to the fetus. There is also less social support for a woman who terminates a pregnancy for genetic reasons than a woman whose child is stillborn. There is evidence that readily available sex selection would ‘foster the already existing bias against the female child, and create an overall imbalance in the male to female ratio worldwide.[9] Being male or female is not pathological. The natural probability for procreating a girl or a boy is integral to the plan of the Creator. Parents should accept their child as a personal gift and natural endowment of the expression of their love for each other. This relationship should not be jeopardized at conception by manipulation and discrimination against one or other gender.
3. Is Prenatal Diagnosis Morally Licit?
Having seen the scope and risks of prenatal diagnosis we can say that prenatal diagnosis are good, but there are certain risks included. We can say that it is justified only in cases under certain conditions, if their purpose and methods used are respectful of the life and dignity of the pregnant woman and her fetus, and provided the requirements of informed consent, due sensitivity for persons with disabilities, and social justice are satisfied. But this does not imply that pregnant women are in duty bound to undergo prenatal screening or diagnostic tests. Here we see some of the conditions for a licit prenatal diagnosis.
3.1 Respect for the life of the fetus
An ethical concern arises over prenatal diagnostic tests that involve risks to the life or health of the fetus. The increased risk of miscarriage of normal fetuses, though unintended, results indirectly as a side-effect of the test. John Paul II stated the following ethical principle: “When they do not involve disproportionate risks for the child and the mother, and are meant to make possible early therapy or even to favour a serene and informed acceptance of the child not yet born, these techniques are morally licit”.[10]At the same time the assessment of these risks necessarily involves both objective and subjective elements, especially for the mother, who may be enduring great stress and anxiety over her fetus’s health, which is also enhanced by the mother’s own good health. The fetus benefits from allaying the mother’s fears and anxiety, which are not isolated from the family situation and community pressures.
3.2 Does Prenatal Diagnosis Lead to Selective AbortionA serious ethical dilemma may arise when pregnant women are informed that their fetus is affected by a serious abnormality. In such a case the solution proposed is, sometimes that of the voluntary interruption of pregnancy. A decision to have an abortion is likely to derive from the fear of being unable to cope with the long-term implications of raising a child with a disability, especially when society condones abortion. Advance warning of future prospects allows them time to prepare to make their decisions. Where prenatal diagnosis is designed to help women to abort abnormal fetuses it is ethically flawed. In such way, a there is connection between prenatal diagnosis and abortion: it is not an intrinsic and necessary connection, but in majority of the cases it is wanted and carried out. Properly, the moral problem is placed here, which can be formulated this way: is it permissible to resort to prenatal diagnosis or to practise it when abortive wish subsists in the case of inauspicious prognosis? In the light of the moral doctrine on the abortion, it is logically affirmed that when there is apparent abortive intention in the woman who applies it, and when the geneticist is certain of such intention, the prenatal diagnosis results morally and seriously illegitimate: not only for the woman, but also for the geneticist who co-operates.[11] According to Cardinal Dionigi Tettamanzi, it is the intention or abortive wish that morally vitiates the diagnosis.[12]
Pope John Paul II comments: “Such an attitude is shameful and utterly reprehensible, since it presumes to measure the value of a human life only within the parameters of ‘normality’ and physical well-being, thus opening the way to legitimising infanticide and euthanasia as well”.[13] So it would be unethical to decide to have an abortion if a fetal abnormality is detected. Likewise, from a pro-life perspective, it would be unethical for a health professional to try to persuade a woman to have the test for this purpose, or who made consent to abortion, a condition for having the test.
In a survey of 20 papers it was found that termination rates after diagnosis of Down syndrome varied, with the highest being 92 percent.[14] Thus there is a clear link between information about abnormal fetuses and selective abortion. Positive results change parents’ anxiety of incertitude to the trauma of knowing the fetus is affected with a defect.
Another ethical problem is whether prenatal diagnosis per se amounts to material co-operation with the subsequent abortion of abnormal fetuses. According to Tettamanzi the relationship between the prenatal diagnosis and the abortion is not only given by the apparent abortive intention /will, but it can be given by the same concrete situation in which the diagnosis is done, or rather when, really attended the concrete circumstances, the diagnosis cannot have other results than abortion. In such sense, according to him, it would be necessary to be careful to verify, besides, whether the appeal for the prenatal diagnosis is entirely the fruit of a socio-cultural pressure of totally unacceptable eugenism, whether it is concretely impossible any medical-surgical intervention for the cure of the malformation diagnosed, or whether it is entirely absent any form of solidarity able to offer alternatives to the choice of abortion.[15]
3.3 Informed Consent, Counselling, and Pastoral Care
Pregnant women and their partners need practical freedom to consent to, or decline, prenatal diagnosis without any undue pressure. There is no ethical duty to have them nor should women be made to feel guilty if they don’t. Women’s decisions to undergo or forgo prenatal diagnosis need to be informed and free. Before they choose to have prenatal screening or diagnostic tests, pregnant women should be adequately informed by doctors or qualified genetic counsellors about the purpose of the tests, their risks, the available treatment options with their likely outcomes and their implications for themselves and their children.[16] It is their role to point out to women and their partners the relevant scientific and medical facts, the range and degrees of risks involved, and their correct interpretation. Post diagnostic counselling is also very important. According to Giovanni Russo the ethico-deontological peculiarity of counselling strengthens one in the post diagnostic moment.[17] According to him this communication should be characterised by certain principles or ethical values, that don’t have to enter in to conflict but to be harmonized between them: the defence of the life, which doesn’t have exceptions, the duty to say the truth, professional responsibility to act according to science and conscience, the respect of the freedom of parents, a solidarity from whoever can have involved in the assistance of a possible handicap, organizing a net of helps and services for the best reception of the baby.[18] The dignity of the fetus must be signalled as a datum which cannot be put aside in the following evaluations of the diagnosis. This type of consultation, to be accomplished in a valid way, needs not only competence and sense of responsibility from the physician, but also of great ability of judgment, prudence and humanity. The counselling finally has to bring out the decision, fully informed and free of the clients.[19]
3.4 Professional Confidentiality
The results of prenatal tests are personal and should be kept strictly confidential between the woman and her doctor and only shared with other health professionals if treatment so requires. When information is obtained about oneself, but which may also be true of another family member, family solidarity morally requires that an offer be made to share this information with the relative concerned, especially if this knowledge would influence this relative’s decision about having children, with a high risk of them inheriting a serious disease. The doctor should try to convince the person of their duty in such a case.
3.5 Sensitivity for the people with disabilities The inevitable presence of congenital defects does not diminish the dignity nor inviolable rights of the persons so afflicted. They deserve love and care from their families and dedicated service from health professionals. We cannot under-rate the stress caused by the realization of the consequences that the long-term presence of a child with a disability may have on the daily life of the family, its income, and life plans. These are a few of the reasons why some pregnant women have recourse to prenatal screening and diagnosis. They want to be reassured their fetus is normal, to seek any available fetal therapies, or to prepare themselves to care for a child with a disability. This is not the same as saying that there is a right to a child without defects.
4. Synthesis of the Catholic moral doctrine
At the end of these considerations on the ethical aspects of the prenatal diagnosis we now, consider the teaching of the Catholic Church on this issue. Here, for this purpose we take Donum vitae, instruction of the Congregation for the Doctrine of the Faith and the encyclical Evangelium vitae. To the question: ‘is prenatal diagnosis morally permissible?’, Donum vitae offers the following answer, subsequently specific and explained in relationship with the different conditions of morality. “If prenatal diagnosis respects the life and integrity of the embryo and the human fetus and is directed towards its safeguarding or healing as an individual, then the answer is affirmative. For prenatal diagnosis makes it possible to know the condition of the embryo and of the fetus when still in the mother's womb. It permits, or makes it possible to anticipate earlier and more effectively, certain therapeutic, medical or surgical procedures”.[20] Thus, the document makes it clear that prenatal diagnosis is per se ethically permissible if its purpose and methods used are respectful of the life and dignity of the pregnant woman and her fetus. The document clearly points out certain specific conditions to be taken in to consideration when these methods are practiced. It very clearly states: “Such diagnosis is permissible, with the consent of the parents after they have been adequately informed, if the methods employed safeguard the life and integrity of the embryo and the mother, without subjecting them to disproportionate risks. But this diagnosis is gravely opposed to the moral law when it is done with the thought of possibly inducing an abortion depending upon the results: a diagnosis which shows the existence of a malformation or a hereditary illness must not be the equivalent of a death- sentence. Thus a woman would be committing a gravely illicit act if she were to request such a diagnosis with the deliberate intention of having an abortion should the results confirm the existence of a malformation or abnormality. The spouse or relatives or anyone else would similarly be acting in a manner contrary to the moral law if they were to counsel or impose such a diagnostic procedure on the expectant mother with the same intention of possibly proceeding to an abortion. So too the specialist would be guilty of illicit collaboration if, in conducting the diagnosis and in the communicating its results, he were deliberately to contribute to establishing or favoring a link between prenatal diagnosis and abortion”.[21] In conclusion it also gives some directive to the civil and health authorities and to the scientific organizations and condemns any directive or program which in any way favor a link between prenatal diagnosis and abortion, or which were to go as far as directly to induce expectant mothers to submit to prenatal diagnosis planned for the purpose of eliminating fetuses which are affected by malformations or which are carriers of hereditary illness, is to be condemned as a violation of the unborn child's right to life and as an abuse of the prior rights and duties of the spouses[22]. Later in 1995 another synthetic presentation of the position of the Church is offered by Pope John Paul II in his encyclical Evangelium vitae. There he invited all for a special attention in evaluating the morality of prenatal diagnostic techniques which enable the early detection of possible anomalies in the unborn child. He is clear that because of the complexities of these techniques, an accurate and systematic moral judgment is necessary. Then he goes on giving some specific directives: “When they do not involve disproportionate risks for the child and the mother, and are meant to make possible early therapy or even to favour a serene and informed acceptance of the child not yet born, these techniques are morally licit. But since the possibilities of prenatal therapy are today still limited, it not infrequently happens that these techniques are used with a eugenic intention which accepts selective abortion in order to prevent the birth of children affected by various types of anomalies. Such an attitude is shameful and utterly reprehensible, since it presumes to measure the value of a human life only within the parameters of "normality" and physical well-being, thus opening the way to legitimizing infanticide and euthanasia as well”.[23]
Conclusion
Pregnancy is a time of excitement and wonder, tempered by natural concerns about the well being of the developing fetus. Prenatal tests are offered to women to help determine the health of the fetus. Prenatal diagnoses are per se ethically permissible, but it must be done under certain conditions. Their purpose and methods used are respectful of the life and dignity of the pregnant woman and her fetus, and the requirements of informed consent, due sensitivity for persons with disabilities, and social justice must be satisfied.
Notes
[1] Cfr. William E. May, Catholic Bioethics and Gift of Human Life, Our Sunday Visitor Inc., Huntington, Indiana, 2000, 220.
[2] Cfr. Norman M. Ford, The Prenatal Person: Ethics from Conception to Birth, Blackwell Publishing, Oxford, 2002, 130.
[3] Dionigi Tettamanzi, Nuova Bioetica Cristiana, Piemme Edizioni, Casale Monferrato, 2000, 302.
[4] Cfr. Norman M. Ford, The Prenatal Person, 131.
[5] Cfr. Ibid. 131.
[6] Cfr. Jose Joseph Palliyodil, Anthropological and Moral Implications of Preimplantation Genetic Diagnosis, Pontificia Universitas Santa Crucis, Roma, 2007, 14.
[7] Cfr. Ibid. 15.
[8] Cfr. Elio Sgreccia, Manuale di Bioetica,: Fondamenti ed Etica Biomedica, Vol. 1, Vita e Pensiero, Milano, 1999, 344.
[9] Norman M. Ford, The Prenatal Person, 139.
[10] John Paul II, Evangelium vitae, (Encyclical Letter on the Value and Inviolability of Human Life, March 25, 1995) no 63, Libreria Edtrice Vaticana, Città del Vaticano, 1995, 90.
[11] Cfr. Dionigi Tettamanzi, Nuova Bioetica Cristiana, 302.
[12] Cfr. Ibid 303.
[13] John Paul II, Evangelium vitae 63, 90.
[14] Cfr. Norman M. Ford, The Prenatal Person, 137.
[15] Cfr. Dionigi Tettamanzi, Nuova Bioetica Cristiana, 303-304.
[16] Cfr. Norman M. Ford, The Prenatal Person, 134.
[17] Cfr. Giovanni Russo, Enciclopedia di Bioetica e Sessuologia, Editrice Elledici, Torino, 2004, 617.
[18] Cfr. Ibid. 617.
[19] Cfr. Ibid. 617.
[20] Congregation for the Doctrine of the Faith, Donum Vitae, 1, 2 (Instruction on Respect for Human Life in its Origin and the Dignity of Procreation: Replies to Certain Questions of the Day, February 22, 1987), Catholic Truth Society, London, 1987, 13.
[21] Ibid. 13- 14.
[22] Cfr. Ibid. 14.
[23] John Paul II, Evangelium vitae, no 63. 
