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Volume 2 , Issue 1 Date: Winter, 2002 Topic: Genetics:
Scientific Advances...Human Choices

Difficult Choices: Prenatal Testing for Disability

by Lisa Susswein, MS

Marie is 38 years old and 18 weeks pregnant with her third child. She and her husband both work full-time to support their family, but decided they wanted one more addition. Since she is over the age of 35, Marie was referred by her obstetrician to have an amniocentesis to look for abnormalities. She and her husband just learned the results of their amnio: their baby will have Down syndrome.

Neither Marie nor her husband know anyone with mental retardation. Their initial reaction is visceral and negative. After a day of grieving the child they envisioned, the couple meets with their genetic counselor to discuss their plan for the pregnancy. The counselor offers information and resources but also informs them that termination of the pregnancy is only a legal option for another three weeks.

Is termination something they would consider? They wanted to be pregnant, but did not expect any problems. Bits of information float in their heads. Mental retardation. Typical facial features. Heart defect. Could they handle having a child with Down syndrome? What about their other children and the attention they need? Would one of them have to stop working to care for this new child? What do they need to know and how will they decide?

Marie’s situation is not uncommon and it raises ethical questions about genetic testing. What factors should the couple consider before making a decision? Should they be encouraged to meet with someone with Down syndrome? If Marie terminates her pregnancy, is she implying that the lives of people with Down syndrome are less valuable or worthwhile?

Since the advent and refinement of prenatal testing within the past several decades, we are faced with the challenge of using genetic technology responsibly, creating as much good and as little harm as possible to both individual patients and society as a whole. However, not all welcome the ever-evolving technology of prenatal testing. Some find prenatal testing an affront to those with disabilities.

Much of the process surrounding prenatal testing involves genetic counselors, generally Masters-level professionals with training in genetics, psychology and ethics.
As genetic counselors, we address these complex issues in part by adhering to our Code of Ethics and participating in ongoing dialogue about the ethics and impact of genetic technologies. This discussion will summarize the process of prenatal testing, highlight some of the criticisms of prenatal testing, and describe how some genetics counselors approach disability in their sessions.

Prenatal Testing

In this era of unprecedented ability to prenatally diagnose genetic conditions, prenatal testing has become routine. When prenatal testing was first developed, it was offered primarily to women with a personal or family history of a genetic condition. Today, it is standard of care to offer amniocentesis to all pregnant women over the age of 35, as well as to those at high risk.1 The rationale for using age 35 as a cut-off is one of probability. As women get older, the chance of conceiving a child with a chromosomal abnormality increases. At the age of 35, the chance of detecting a chromosomal abnormality by amniocentesis equals the chance of miscarriage due to the procedure, about 1 in 200 or 0.5%.2

Amniocentesis, the most common method of testing, involves inserting a needle into the womb and withdrawing a small amount of amniotic fluid. This fluid contains cells which have come from the developing fetus. Using these cells, scientists can look at chromosomes, or packages of genetic material, from the developing baby. Extra or missing chromosomal material can cause developmental delay as well as physical problems.

The kinds of disorders detected by routine amniocentesis vary in severity. At one extreme are rare, fatal disorders, which usually cause death within the first year. At the other extreme are sex chromosome abnormalities, which may cause infertility, hormonal abnormalities and learning disabilities, but not a shortened life span and fewer major health problems. One of the most common chromosomal abnormalities is Down syndrome, which involves moderate to severe mental retardation and an increased risk for heart defects and other medical conditions. Despite these limitations, children with Down syndrome can attend school, have busy social calendars, and often have jobs.

Criticisms of Prenatal Testing

While many people with disabilities find the field of genetics to be promising and welcome advances such as prenatal diagnosis,3 some scholars of the disability rights perspective object to certain aspects of prenatal testing. The seminal paper on prenatal testing and disability was published by the Hastings Center Group, based on a two-year discussion involving philosophers, geneticists, individuals with disability, parents of children with disabilities, and others.4

One criticism of prenatal testing is that the process both reflects and perpetuates distorted social perceptions of disability. Some suggest that the medical establishment’s embracement of routine prenatal testing implies that disability, not discrimination against the disabled, is the problem to be addressed. If people with disabilities were fully integrated into society, there would be less impetus for testing because those with disabilities would not be seen as “other” or “undesirable.” Discrimination exists, they say, in the mere offer of the test, whether or not parents choose to pursue testing.5

Critics of prenatal testing also feel that prospective parents may have unrealistic and negative views of disability. They worry that parents are not provided with adequate information for their decision-making, particularly information that presents disability from the perspective of those with disabilities.6 They also fear that patients are not encouraged to be introspective, asking themselves what they are looking for in parenthood and whether disability would interfere with that vision.

Those concerned about prenatal testing do concede that it is morally acceptable for prospective parents to terminate pregnancies after a prenatal diagnosis of conditions which are fatal in infancy or early childhood. In situations where families can be spared the sorrow of caring for and then losing a child, prenatal diagnosis can be beneficial, even in the minds of the critics. It is the “middle-ground” disorders, or disabilities, which create moral and ethical dilemmas. Those of the disability rights perspective would not propose that prenatal diagnosis be banned. Rather, they call for the prenatal testing process to encourage decision-making which is “thoughtful and informed, not thoughtless and automatic.”4

The Role of Genetic Counselors

Two of the main tenets of the genetic counseling profession are promoting patient autonomy (helping patients make an independent decision that is most in line with their values and personal situation) and practicing with non-directiveness (providing neutral information and allowing patients to make their decisions without feeling judged). As providers of genetic services, genetic counselors have the responsibility to stay abreast of current legal, social and moral aspects of genetics. In this light, it is important consider how genetic counselors integrate the larger, moral issues, like the criticisms of prenatal testing, into their individual sessions.

I recently conducted a qualitative research study in which I interviewed 18 prenatal genetic counselors to gather their responses to some of the criticisms of prenatal testing. Overall, counselors recognized that prenatal testing followed by termination of affected pregnancies could be viewed as discriminatory. However, they believed that termination does not necessarily send a message. In their minds, ending a pregnancy is a personal decision which should not be taken as a political or judgmental statement.7

Critics of prenatal testing recommend that every patient who receives a prenatal diagnosis be given information written by individuals who have a disability. They also recommend that patients meet with a family who has a child with that diagnosis.4,6
Counselors agree that more exposure to disability would be helpful to patients who are making decisions about a pregnancy. However, counselors are quick to point out that pregnancy is not the ideal time for in-depth disability education, especially during the emotional period after receiving news that a child has an unexpected disorder. Counselors believe their role is to provide their patients with necessary information about a disorder and then support them through whatever decision they make.

Should Marie continue her pregnancy? Genetic counselors believe that it is not for us to say. Should her genetic counselor ask her to contemplate how she will feel, if she does terminate, when she sees a smiling child with Down syndrome playing in a sandbox? Yes. We must strive to present a balanced view of each disability so that patients can make educated choices.

In the end, criticisms of prenatal testing will always challenge counselors to integrate broad ethical and social issues into our sessions, while keeping the best interests of our patients in mind. We continually try to find sensitive ways to offer patients as much information about disease and disability as possible, while respecting their individual perspectives and needs. Furthermore, we attempt to make genetic counseling sessions a safe place for patients to explore their feelings about disability, while realizing that in the limited time frame of the pregnancy and of the session, patients may not be able or comfortable to participate in this type of exploration.

As genetic technology progresses, genetic professionals and society as a whole will be expected to continually reevaluate our morals. In the near future, researchers will have isolated genes which influence non-health related traits such as hair color and personality. Careful examination of prenatal testing as it pertains to disability will lay the groundwork to move forward into other ethically challenging areas. The meaning of “disability” and those disabilities “severe” enough for testing are topics for debate. It is my hope that dialogue between the genetics community and the disability community continues to grow as we grapple with the ethics of prenatal testing.

References

1. Rapp R (1999). Testing Women, Testing the Fetus. New York, Routledge.
2. Hook EB (1981) Rates of chromosome abnormalities at different maternal ages. Obstetrics and Gynecology 58:282-285.
3. Chen E and Schiffman J (2000). “Attitudes Toward Genetic Counseling and Prenatal Diagnosis Among a Group of Individuals with Physical Disabilities.” Journal of Genetic Counseling 9(2): 137-152.
4. Parens E and Asch A (1999). “The Disability Rights Critique of Prenatal Genetic Testing: Reflections and Recommendations.” Hastings Center Report. 29(5): S1-S22.
5. Press N (2000). Assessing the Expressive Character of Prenatal Testing: The Choices Made or the Choices Made Available? Prenatal Testing and Disability Rights. E. Parens and A. Asch. Washington, DC, Georgetown University Press.
6. Dunne C and Warren C (1998). “Lethal Autonomy: The Malfunction of the Informed Consent Mechanism within the Context of Prenatal Diagnosis of Genetic Variants.” Issues in Law & Medicine 14(2): 165-202.
7. Susswein L (2001). Prenatal Testing and Disability: The Role of Genetic Counselors. Genetic Counseling Program. Waltham, MA, Brandeis University.
Other Selected References
      Hubbard R (1985). “Prenatal Diagnosis and Eugenic Ideology.” Women's Studies International Forum 8(6): 567-576.

      Lippman A and Wilfond B (1992). “Twice-Told Tales: Stories about Genetic Disorders.” Am J Hum Genetics 51: 936-937.

      Parens E and Asch A (2000). Prenatal Testing and Disability Rights. Washington DC, Georgetown University Press.

      Saxton M (1984). Born and Unborn: The Implications of Reproductive Technologies for People with Disabilities. Test Tube Women -- What Future for Motherhood? R. Arditti, K. Duelli, and S. Minden, Pandora Press: 299-312.

      Wertz D and Fletcher J (1993). “A Critique of Some Feminist Challenges to Prenatal Diagnosis.” Journal of Women's Health. 2(2): 173-188.


Picture of Lisa SussweinLisa Susswein, MS, is a genetic counselor. Her graduate thesis, entitled Prenatal Testing and Disability: The Role of Genetic Counselors, focused on prenatal genetic counselors' approaches to disability in their sessions. Ms. Susswein is currently at the University of North Carolina where she counsels individuals about genetic testing for cancer susceptibility genes. She can be reached at susswein@med.unc.edu.

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