Prenatal Diagnostic Tests and the Social, Legal, and Ethical Implications

Sara McLean

Copyright 1997


Jackie and Michael are expecting their first baby. Jackie is 32 years old and is in good health. She is 15 weeks pregnant and wants to do everything possible to ensure a healthy baby. Even though they do not have risk factors within their families, she and Michael decide to have an amniocentesis.

The results indicate that their baby is a female with Turner Syndrome. This condition is caused by a missing X chromosome and results in short stature, ovarian failure, and medical problems involving the heart, thyroid glands, and kidneys. Some of these conditions can be treated and managed with great success. The question that arises after diagnoses is whether or not they will choose to terminate the pregnancy with an abortion or carry the child to full term.

The availability of methods that determine the genetic predisposition of a fetus gives rise to a whole array of questions and issues that must be confronted as we develop policies to deal with genetic testing. In this essay, I will present current and future methods for prenatal diagnosis, ethical concerns and related problems dealing with this new technology, my personal opinion on the issue, and finally, future goals in the science of genetics.

All of us are potential carriers of several deleterious recessive genes that could be lethal to our offspring if combined with another recessive allele carrying the same fate (IOM 1994). The chances of a genetic disease being passed on are 1 in 100 Americans born today (March of Dimes 1997). Because of the risks involved, many people are having prenatal tests to examine the genetic makeup of their fetuses. For many couples, this option enables them to ensure they will have healthy children that they might not have had because of a history of inherited diseases. This information relieves a lot of parental anxiety and unfulfilled expectations of an impaired child.

People who may be especially interested and advised for testing might include couples with a family history of genetic disease, those that might have a birth defect, pregnant women over the age of 34, couples who already have a child with a genetic disorder, and couples concerned about specific disorders that occur more frequently within their ethnic group (March of Dimes 1997).


Currently, there are four prenatal diagnosis techniques used. The first, and safest method, is an ultrasound. It is noninvasive and can assess and evaluate gestational age, fetal position, growth, development, and any structural birth defects. When performed by highly skilled operators, abnormalities can be detected with as high as 90% accuracy (IOM 1994).

The next technique routinely performed for prenatal diagnosis is amniocentesis. A long needle is inserted into the motherís uterus to withdraw a sample of amniotic fluid containing cells shed by the fetus. The cells are cultured and analyzed for chromosome abnormalities. Despite the lengthy time in obtaining results because the cells need to be cultured, this method has become widely accepted as a safe and accurate way to determine genetic disorders.

Chorionic Villus Sampling (CVS) is yet another technique that can be performed very early on in gestation-between 9 and 12 weeks. A catheter is passed through the cervix into the uterus, and a sample of the chorionic villus surrounding the sac, which protects the fetus, is obtained. Large amounts of DNA are gathered and analyzed within 24 hours. Because of the quick results and use early on in pregnancy, abnormalities can be identified and used to make more acceptable decisions about selective termination of the pregnancy. Abortion is also much safer at this early stage (Weatherall 1991).

The last method involves fetal blood sampling and is called percutaneous umbilical cord sampling (PUBS). A needle is inserted into the umbilical cord and fetal blood is obtained and evaluated for metabolism or hematologic abnormalities (IOM 1994).

In addition, a couple of new technological advances may become combined with prenatal diagnosis in the near future. First, the use of dot-blot technology could be used to detect point mutations more easily and more accurately. CVS and PUBS methods are still used to obtain the DNA samples; however, the DNA is then simply spotted on a nylon filter, probed with oligonucleotides, and non-radioactively labelled with probes to identify genetic diseases (Weatherall 1991).

Another advancement on its way combines prenatal diagnosis with in vitro fertilization. This technique would involve acquiring a number of fertilized ova and analyzing them for a particular genetic disorder before implanting a healthy one into the uterus. This approach may be more acceptable to couples who oppose abortion (Weatherall 1991).

Pros and Cons

Although many of these options for prenatal diagnosis are being used and benefited from by amiable couples wishing to have healthy children, opponents of these genetic tests are not giving up without a fight. They bring up many concerns and issues that must be dealt with if we are to evolve in the science of genetics.

Many opponents believe in the preservation of all life, and until we come up with cures to all genetic diseases, terminating the lives of inflicted fetuses will remain prevalent in our society. Besides the fact that eliminating a human being that cannot be cured violates the principles of medicine, prenatal diagnosis combined with the option of terminating the pregnancy raises two more issues: selective breeding, or eugenics, and value judgements.

The first, eugenics, might include using abortions as a means of eradicating a disease and eliminating an entire population that did not fit into societyís criteria for an ideal community. Also, specific physical characteristics, such as eye color and IQ, will eventually be obtainable. Will we, as a society, emerge into a supremacy in which those with bad genes will be scorned.

A second problem that might need to be addressed involves value judgments. Prenatal tests are being used more and more. Parents are choosing to abort a child based on any indication of a birth defect, no matter what the severity. The Institute of Medicine recommends that prenatal diagnosis not be used for minor conditions or characteristics (Botkin 1995). But who decides what a minor condition is? Different views depend on the coupleís race, culture, education, religious beliefs, and economic status. The decision will also depend on what information about the abnormality is presented to them and how they interpret the data.

Undoubtedly, these problems address the need for ethical and legal standards. A parental crusade for the perfect baby is well on its way. While we must uphold the freedom of choice, we must decide what is best for society as a whole.

While there are opponents to the use of these tests, more people are in favor of them. Prenatal testing and selective abortion to avoid a seriously genetically impaired child is widely accepted in the United States. It was determined that 79% of Americans believe abortion should be available for a fetus with a severe abnormality (Botkin 1995). Some believe that the birth of a child with a severe genetic disorder may bring the mother and/or family distress, psychological harm, emotional harm and suffering, loss of a child, loss of opportunities, loss of freedom, isolation, and financial expenses (Morejon 1996).

An additional potential threat that could present itself with the birth of a defective child may be the quality of the relationship between parents and the child. For instance, a child may be subjected to activities that do not necessarily benefit the child because of the parentsí lack of preparation for dealing with the child. Also, the childís personal freedom may be restricted or his/her condition may lead to fragile treatment.

Societal discrimination also makes raising a child much more difficult, not only for those actually having a genetic disease, but also for individuals who have a predisposition to one. The latter refers to late onset disorders in which the person may be symptomless until later on in his/her life. There has already been over 200 reported cases cases of genetic discrimination involving health insurance, employment, and adoption (Arc 1997). A key element that must be remembered, however, is that just because we may have the gene for a disease doesnít mean we will get the disease. Many other physical and environmental factors contribute to the development of the disease.

According to Francis Collins, Director of The National Center for Human Genome Research, all of us carry probably 4 or 5 really fouled up genes and another couple of dozen that are not so great and place us at risk for something (Arc 1997). If this is true, everyone is genetically impaired and could be subject to discrimination.

My Beliefs

My personal opinion coincides with the majority of the population. Although my ideal scenario would be carrier screening of all at risk couples before conception, I believe in the use of prenatal tests to determine severe abnormalities in a fetus. I would never want to subject any child to a disease in which the consequences are severe and detrimental as well as something the child has no control over. I cannot bear the thought of any child suffering needlessly because of an unforeseen deleterious inheritance from itís mother and father.

To me, the benefits far outweigh the consequences of bringing a helpless baby who may surcome to a serious and fatal destiny into this world . Until we can intervene with effective treatments, I believe testing is necessary.

Upon completion of the Human Genome Project, a worldwide effort to map out the entire sequence of human genes, we will be able to develop these treatments. New diagnostic and prevention techniques will enable us to detect genes leading to disease. The knowledge will bring about an increased availability of genetic testing and gene therapy. Along with this profound discovery, the field of genetics will give rise to an even more debated issue. Government intervention of standards and policies will be called upon to regulate genetic testing.

To prepare citizens for informed personal decision making, public education and counseling will become vital to understand these new genetic concepts. We will also need to rely on our pre-existing knowledge and values if this emerging technological field is to be dealt with appropriately. My outlook for the future is optimistic. We will be able to cure diseases we never dreamed possible, and the lives of humans will be improved eminently.

References Cited

Arc. Genetic Discrimination. Obtained from WWW 10/09/97:

Botkin, Jeffrey R. Fetal Privacy and Confidentiality. Hastings Center Report, Sept.-Oct. 1995:32-39.

Institute of Medicine. Assessing Genetic Risks. National Academy Press, Washington, D.C. 1994.

March of Dimes Birth Defects Foundation. Genetic Testing and Gene Therapy: What They Mean to You and Your Family. Obtained from WWW 10/09/97:

Mattei, Jean-Francois. Prenatal Diagnosis. World Health, No. 5, Sept.-Oct. 1996:22-23.

Morejon, Diana Punales. Commentary. Hastings Center Report, May-June 1996:21-22.

Weatherall, D.J. The New Genetics and Clinical Practice. Oxford University Press, 1991.

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