Catholic Health Care Advocates Papers
Ethical Aspects Of Prenatal Diagnosis And Non-directive Counseling
Paddy Jim Baggot, MD
The legitimacy of amniocenteses would be significantly enhanced by inclusion of a test for a treatable disorder such as one or more of the biochemical genetic disorders. A key factor in the legitimacy of an amniocentesis is determining if "risks are not disproportionate." Delaying amniocentesis until after viability would enhance legitimacy unless the effectiveness of medical treatment were compromised by delay and diagnosis.
It is amniocentesis listed as part of a research protocol for the development of treatments to benefit the fetus. His Holiness states "although one must uphold as licit procedures carried out on the human embryo which respect the life and integrity of the embryo and do not involve disproportionate risks for it, but rather are directed towards its healing, the improvement of its condition, or its individual survival and, it must nonetheless be stated that the use of human embryos or fetuses as an object of experimentation constitutes a crime against their dignity as human beings who have a right to the same respect owed to a child once born, just as to every person." The use of human embryos or fetuses as an object of experimentation would in general obviously be unconscionable, however, when the goal of such experimentation is directed toward healing the fetus or embryo, improvement in its health or survival, then such experimentation would seem to be just as legitimate as it would be in a child already born or in an adult. The use of human embryos or fetuses in experimentation would not be legitimized by a slight or remote or trivial therapeutic intent which would only be a transparently phony veneer. On the other hand if the intent truly is for the health and benefit of the fetus or embryo, then the experimental nature of the protocol would not be a bar.
Finally, whether the intent is to diagnose or treat a condition we need to consider what is the likelihood of a positive diagnosis. If for example, the risk of Down’s syndrome is 1 in 500 or even 1 in 200 it would suggest that the intent of the procedure is eugenic. If the patient and doctor both agree that abortion will not result from the procedure, then the procedure that seems to be eugenic is in fact not eugenic. If the condition is not treatable but only diagnosable then one has to weigh the risk of the procedure against the value of making the diagnosis. This judgment can probably only accurately be made by physicians who are clearly pro-life. In fact, this particular point illustrates one of the tremendous differences between a pro-life perinatologist and a "pro-choice" perinatologist. The "pro-choice" perinatologist claims to be able to take care of either "pro-choice" patients or pro-life patients. In truth though he cannot have two different agendas which radically contradict each other.
If a mother has a small, early cancer on her cervix which has a 1 in 1000 chance of causing her death from cervical cancer and she is not pregnant no one would think twice about doing a hysterectomy or using radiation therapy or whatever treatment. If there is a baby inside the uterus, then it’s a totally different situation. Whether or not a baby is a person with rights or mere growth is perhaps the most important consideration in obstetric decision making. It’s hard to imagine one could pretend that this critical factor would not influence one’s thinking. It’s so important that it will influence one’s thinking even when you least expect it to. With patients who are being counseled by "pro-choice" doctors need to have the alternative of being counseled by a pro-life doctor if that is what they wish.
In today’s secular society, non-directive counseling is widely advocated for mother’s of fetuses with birth defects, for genetic counseling and for high risk pregnancies. The aim of non-directive counseling is to present options factually. Non-directiveness is felt to be an ethical imperative. Non-directiveness is so well entrenched in genetic counseling that it seems to have become the equivalent of an established state religion. Everyone is obliged to believe and practice non-directive counseling.
Non-directive counseling is not itself non-directive, since offering abortion implies approval thereof. Facial expressions may expose beliefs (Simpson, J.L. 1991). Non-directive counseling has biases which are not disclosed (Thorpe, et al 1995).
Women are offered prenatal diagnosis to determine whether their fetuses are likely to have Down syndrome or major birth defects, but women are not encouraged to have amniocenteses for sex selection. It would be possible to perform carrier testing on fetuses for Tay-Sachs and other diseases typical of Jewish ancestry. If the eugenic goal is to eliminate Jewish children rather than to eliminate children with Tay-Sachs disease then the fact that the fetus was a carrier but would not get the disease, would be adequate to suggest Jewish ancestry. These hypothetical examples illustrate that there are indeed undisclosed biases in non-directive counseling. To be biased against female children or Jewish children is not only immoral but also politically incorrect. To be biased against children with Down syndrome is immoral but it is no longer politically incorrect. The physician who does not urge what is best for his patient is lacking in beneficence and forthrightness. Is non-directive counseling itself moral? Is it just? Is non-directive counseling honest? To clarify these issues let us appeal to a hypothetical example.
Suppose a patient was found to have appendicitis. Therapeutic options are hypothetically limited to acupuncture and surgery. Imagine a surgeon telling his patient, ‘ we can treat your appendicitis with either acupuncture or surgery; whatever you want to do is up to you- I don’t really care what you decide.’nnIf the surgeon truly does not care whether his patient chooses acupuncture or surgery then he does not truly care about the welfare of this patient since the therapeutic effectiveness of surgery is much greater than the therapeutic effectiveness of acupuncture, which is hypothetically assumed to be negligible. If the surgeon truly does care about the welfare of his patient, but says that he doesn’t really care which option he chooses, then the surgeon is being dishonest. Most people would feel that such counseling would be immoral, dishonest and unjust. Certainly it is not loving, caring or responsible.
In some cases the doctor’s agenda may differ from the mother’s agenda. This problem could be most acute where the doctor is "pro-choice" and the mother is pro-life. Even if the mother is not pro-life in her political persuasions or ethical theories, most all mothers are pro-life about the one particular baby which moves within her abdomen. A mother is usually pro-life about the one particular baby which moves within her abdomen.
Many doctors are afraid of lawsuits. They may paint a bleaker picture of the prognosis before birth, while abortion is still an option, than they would after birth, when abortion is no longer an option. Some doctors may feel that they make a utilitarian contribution to society by providing prenatal diagnosis with selective abortion. They may feel that this prevents the birth of babies with birth defects and thereby reduces the cost to society as manifested by taxes, insurance costs, and medical expenses. They may feel that they prevent suffering by the mother or child. Abortion complications are rarely emphasized if even discussed. Psychological harm from abortion is well documented particularly in pregnancies terminated for fetal anomaly (Rue, 1994; Ney, 1994). Physical complications such as immediate maternal hemorrhage, hysterectomy or mortality and long term complications such as future miscarriage, infertility, and premature labor get short shrift (Hilgers, 1972). The de-emphasis of abortion complications reflects the fact that these are not widely known, although certainly documented.
The mother’s perspective is quite different. Law suits and costs to society are abstractions. Most mothers think about their responsibilities to the baby, their responsibilities to their other children, their responsibilities to their husband and their responsibilities to the other people in their life.
She contemplates her duty to her child and to the rest of her family. Can she bear all these burdens? Who will help her? She is not concerned about law suits or costs to society which are abstractions. She would be very interested in medical and psychological complications resulting from abortion. She needs to be counseled in regard to her own agenda not someone else’s agenda.
Among the considerations above WE HAVE FORGOTTEN SOMEONE. Fetuses are not allowed informed consent for abortion. Since fetuses cannot give informed consent for abortion, it should never be performed on them. The baby, no matter what his condition, has a right to maternal love. No matter how short his or her life, he deserves and has earned at least one maternal embrace after spending nine months cooped up in a womb. Experts sometimes pontificate as to the future quality of life that a given baby may have. Such considerations are entirely speculative. If a baby could talk back he or she might say, "you cannot predict my future happiness."Some might suggest that a baby’s life would be worthless or might even have negative value. Such an assertion would presume more omniscience than even doctors have. Such calculations are usually based on some type of utilitarian arithmetic which degenerates into absurdity with only brief consideration. If we would measure a man or a woman’s value by how much money he makes or how much taxes he pays, then an abortionist would be worth far more to society than Mother Teresa. It is common in some circles to gage one’s value or productiveness as proportional to one’s intelligence or intellectual accomplishment. If that was really all that mattered then why don’t we watch the college bowl instead of the Super bowl. At times I have stood around the bassinet of baby in the neonatal intensive care unit listening to a discussion of the prognosis of a baby with one or more birth defects and whether it was worthwhile to make efforts heroic or otherwise to save the baby’s life. Invariably these discussions seem to focus primarily on estimations of the baby’s long term intellectual accomplishment. Imagine instead that this conference is being conducted by professional basketball players instead of physician specialists. Imagine the poetic justice if one of the basketball players would say, "well he might go to Harvard Law School, but he will never be more than five and a half feet tall. Just disconnect everything."
Another frequent concern in these discussions is whether the condition is curable. Despite the fact that newspapers, magazines, and medical journals trumpet new medical discoveries every week, we always presume that the disease which is incurable today will still be incurable thirty years from now. In fifty years we have gone from not knowing the structure of DNA even on a general level.
Molecular genetic disorders are caused by misspellings in the DNA sequence of a particular gene. Theoretically all biochemical disorders are also molecular genetic disorders. Molecular genetic disorders usually refer to disorders which are not also biochemical disorders.
One archetype of a molecular genetic disorder is cystic fibrosis (CF), which is a respiratory disease. As in many molecular genetic disorders the disease is caused by malfunction of a protein. Mapping and cloning of the cystic fibrosis gene was pioneered by Francis Collins now director of the Human Gene Project.
Cystic fibrosis was initially known as mucoviscidosis. It was given this name because children with this disease were unable to excrete their pancreatic enzymes into the intestines because the pancreatic ducts were blocked by viscous accumulations of mucoid secretion. As a result these children died of malabsorption in the first one or two years of life. These children could be treated by pancreatic enzyme replacement vastly increasing their lifespan. Now these children develop severe chronic respiratory disease. Until recently their life spans were cut short in the teens and twenties due to chronic progressive lung disease. Many new treatments are being developed for cystic fibrosis which are again extending their lifespan. As in the pancreas, the airways in children with cystic fibrosis are often blocked by viscous mucoid secretions. These secretions contain degenerating cells. Within these degenerating cells are nuclei and within the nuclei are chromosomes which are composed of long filaments of DNA. One reason for the high viscosity of these secretions is the presence of numerous long strings of DNA. This situation can be treated by the application of an enzyme which chews up DNA, known as DNase. In ideal climates where lung infection is minimized, some patients with cystic fibrosis survive past the age of fifty.
Molecular genetic disorders can be either autosomal recessive or autosomal dominant. Autosomal dominant disorders result when a single mutation on either the maternal or paternal copy of the gene is sufficient to cause the disease. For an autosomal dominant disorder each child has a fifty percent risk of inheriting the disease from an affected parent. Most biochemical genetic disorders are autosomal recessive. If either the maternal or the paternal copy of the gene can produce a functional enzyme, then the patient is usually clinically normal. The patient who has one normal gene and one defective or diseased gene is known as a carrier. The parent who is a carrier will randomly pass either the normal or the diseased gene to each child. If both parents are carriers each child has a one-fourth chance of being affected by the disease (McGrae & Williams, 1990).
Molecular genetic disorders are diagnosed by tests which depend on the DNA sequence of the affected gene. The DNA sequence can be copied millions of times by a process known as the Polymerase Chain Reaction (PCR). After amplification the sequence can be tested for the presence of mutations.
Maternal screening for cystic fibrosis has been suggested by some. Molecular generic techniques can be used to determine if a mother is a carrier. Screening of all pregnant women has been proposed. If the mother is screened positive then the father can be tested. If both mother and father are carriers, then fetal genetic material can be obtained by amniocentesis. Diagnosis of cystic fibrosis in a fetus could then lead to other the termination of pregnancy. This should be characterized as a eugenic program to reduce or eliminate the birth of babies with cystic fibrosis. Unfortunately, the rapid strides being made in the treatment of cystic fibrosis have not yet eliminated the desire for such eugenic program.
Is prenatal diagnosis licit? "when they do not involve disproportionate risks for the child and the mother and are meant to make possible early therapy or even to favor a serene and informed acceptance of the child not yet born these techniques are morally licit. But since the possibilities of prenatal therapy are 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....." ( Evangelium Vitae., P. 63).
"And yet the courage and serenity with which so many of our brothers and sisters suffering from disabilities lead their lives when they are shown acceptance and love. There is eloquence to what gives authentic value to life, and makes it, even in difficult conditions, something precious for them and for others. The church is close to those married couples who with great anguish and suffering, willingly accept gravely handicapped children. She is also grateful to all those families which, through adoption, welcome children abandoned by their parents because of disabilities or illnesses."nnHow would we translate the Pope’s wise and gentle guidance into practical guidelines for medical care. If the patient and the doctor agree before amniocentesis that an abortion will not result from the procedure, and if the "risks are not disproportionate" then amniocentesis will always be licit. An agreement between the patient and the doctor ahead of time that the results of the amniocentesis will not serve as a basis for abortion, will go a long way toward making most amniocenteses licit and should be a regular part of Catholic medical practice in the care of high risk pregnancies. If the amniocentesis includes a test for a treatable disorder such as one or more of the biochemical disorders, this also would significantly ???
Two thousand years ago Jesus Christ walked the earth and in one lifetime started a revolution which continues today. He didn’t have time to meet with the Roman Emperor. This was in part because he had spent an extraordinary amount of time healing people. The Divine Physician set an example that we should all closely scrutinize, especially the physicians among us.
Would Jesus do non-directive counseling? Conclusion: Is non-directive counseling licit? His Holiness Pope John Paul II reaffirms "every man is his brother’s keeper" (Evangelium Vitae, 34.)nnSome situations are worsened he states by the "culpable indifference and negligence of those who in some cases could remedy them" (Evangelium Vitae, 10). These statements, as if written in the sand, will for some us illuminate our own culpability, indifference and negligence. You can conclude from them that neutrality in abortion is neither licit nor legitimate. To provide loving, responsible and compassionate care we should encourage them to keep their babies and to love them.
Our Lord said: "Whatever you did to the least of these, that you did also to me" (MT 25:40). In each baby no matter what defects it might seem to have we should see the Holy Infant, or as the Filipinos call him, "Senior Santo Nina." We should treat these babies as if they were the rulers of the world.
This work was supported by the G.I.F.T. foundation, 224 E. NIAGARA, SCHAUMBURG, IL 60193.
- Hilgers, T.W. (1972). The maternal hazards of legally induced abortion. Hilgers, T.W. and Horan, D.J., editors. Abortion and social justice. Sun Life publishers, Thaxton, VA.
- Lynch, L. & Berkowitz, R.L. (1992). Amnioscentesis, skin biopsy, and umbilical cord sampling in the prenatal diagnosis of genetic disorders.
- McGrae, W.M. and Williams, R. (1990). Cystic fibrosis.. Emery, A.E.H. & Rimoin, D.L. editors. Principles and Practice of Medical Genetics. Churchill, Livingstone, publishers. London. Pg. 1161-1165.
- Ney, P.C. (1994). The emotional and physical effects of pregnancy loss on the woman and her family: a multi-centered study of post-abortion syndrome and post-abortion survivor syndrome. Mannion, M. Editor. Post-abortion aftermath. Sheed and Ward publishers. Kansas City, MO. Pg. 69-87.
- Pope John Paul II (1995). Evangelium Vitae, P. 10, 34, and 63.
- Reece, E.A., Hobbins, J.C., Mahoney, M.J. & Petrie, R.H., editors. Medicine of the fetus and mother. J.B. Lipincott publishers. Philadelphia, PA. Pg. 641-652
- Rue, R.M. (1994). The psychological realities of induced abortion. Mannion, M., editor. Post abortion aftermath. Sheed and Ward, publishers. Kansas City, Mo. Pg.5-45.
- Scott, C.R. & Cedarbaum, S.D.(1990). Disorders of amino acid metabolism. Emery, A.E.H. & Rimoin, D.L., Editors. Principles and Practice of Medical Genetics. Churchill, Livingstone, publishers. London.
- Simpson, J.L.(1991). Genetic Counseling and Prenatal Diagnosis. Gabbe, S.G., Niebyl, J.R., Simpson, J.L. Editors. Obstetrics: Normal and problem pregnancies. Churchill, Livingstone, publishers. New York. Pg. 277.
- Thorp, J.M., Weiss, S.R., Bowes, W.A., Cefalo, R.C. (1995). Integrity, Abortion and the Pro-life perinatologist. Hasting Center Report 25, No.1 (1995):27-28.


