In the "Ethical Inquiry" series, we examine ethical questions, highlighting a broad array of opinion from journalism, academia, and advocacy organizations. Our intent is to illuminate and explore the complexity of some of the most vexing ethical questions of our time.
Ethical Inquiry: June 2015
The Ethics of Prenatal Testing for Down Syndrome: Is Knowing Always Better?
We live in the information era. But is knowing always better?
There are many aspects to the genetic testing question. Ethics Center International Advisory Board member Jamie Metzl explores some of these aspects in his novel Genesis Code: A Thriller of the Near Future. He also discussed the topic during a recent talk at Brandeis, "Homo Sapiens 2.0: Genetic Enhancement, Ethics, and the Future of Humanity." (Full video available here.) Metzl focuses on multiple methods of genetic testing, and predicts, “attitudes toward genetic selection and even manipulation will shift as these processes become more mainstream.”
In this installment of “Ethical Inquiry” we will focus on testing for Down syndrome.
Prenatal testing for Down syndrome creates a series of ethical questions related to choice, autonomy and quality of life.
First, there are issues of reproductive choice: providing women with the freedom to choose what to do with their own bodies.
There are also questions of how genetic testing impacts the life of individuals with Down syndrome. Does screening for Down syndrome affect how we value the quality of life for people with Down syndrome? How?
Rayna Rapp synthesizes the ethical dilemma facing expectant women considering prenatal testing for Down syndrome: “[T]he construction and routinization of this technology is turning women to whom it is offered into moral pioneers: situated on a research frontier of the expanding capacity for prenatal genetic diagnosis, they are forced to judge the quality of their own fetuses, making concrete and embodied decisions about the standards for entry into the human community.”
Prenatal testing for Down syndrome has a long history.
Screening for Down syndrome first became possible through the process of amniocentesis and fetal karyotyping in the late 1960s. Most children with Down syndrome were placed in institutions right after birth during the first half of the 20th century. Many doctors told parents that they would be unable to provide for the needs of a child with Down syndrome, and these children were instead separated from their families and communities in institutions.
Prenatal genetic testing for Down syndrome continues to advance. Today, The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women.
There are two levels of testing: prenatal screening and prenatal diagnostic tests. Prenatal screening tests indicate the probability that the child will be born with Down syndrome. Prenatal screening usually involves a blood test and an ultrasound, and is offered during the first and second trimesters. This screening is able to predict approximately 80% of fetuses with Down syndrome.
Following a screening test that indicates a probability of Down syndrome, a diagnostic test is performed. The two forms of diagnostic tests are chorionic villus sampling (CVS) and amniocentesis. These procedures are almost 100% accurate. Amniocentesis is offered at 18 weeks gestation, and carries a risk of miscarriage. (See the American College of Obstetricians and Gynecologists website for more detail.) CVS is offered at 10 weeks, but it carries a higher 1 in 100 risk of miscarriage.
There have been recent technological advances in screening capabilities. In 2014, a new blood test was introduced that is safer for women and provides a more accurate reading. Research indicates that this new screening method has a positive predictive value that is 10 times greater than current methods (45.5 percent compared with 4.2 percent). This means that this new test has the ability to accurately predict whether the fetus has Down syndrome 10 times better than current screening.
Arguments for Screening and Testing
Arguments for screening and testing center on the idea that knowledge is power.
Gives Parents Choice
Knowing that the child will be born with Down syndrome allows parents to “make thoughtful decisions about whether they are prepared to raise a child,” according to Adrienne Asch. Deborah Driscoll, chief of the obstetrics department at the University of Pennsylvania explained that for couples that do not believe that they have the stamina, support of resources to raise a child with disabilities, testing creates a choice.
Parents Can be Better Prepared
Prenatal testing allows for in-utero surgery to repair neural tube impairments, which would not be discovered by doctors without prenatal testing.
Some support prenatal screening as a way to reduce anxiety in parents, by enabling them to better prepare for the arrival of their child with Down syndrome. Parents have reported that knowing the diagnosis before the birth of their child allowed them to do research and learn more about Down syndrome and to inform other family members prior to the birth.
Concerns About Screening and Testing
Discriminatory Towards People with Down Syndrome
Some people believe that prenatal testing for Down syndrome sends a negative or discriminatory to people with the syndrome. They contend that “selective abortion expresses discriminatory attitudes” and question how society’s goal of including people with disabilities in society can coexist with a desire to prevent the births of those who would live with disabilities.
Inadequate Counseling and Information Around Screenings and Tests
Some contend that prospective parents need more and better information to inform their decisions regarding screening and testing and the results of screening and testing.
After receiving test results, some parents don’t receive information about future quality of life for a child with a disability, or information on the positive and negative aspects of giving birth to a child with a disability. Some parents may learn this news having never met or known a person with Down syndrome.
In fact, approximately 90% of women in the United States who receive the diagnosis that their child will have Down syndrome through prenatal testing choose to abort the pregnancy. Columnist George Will characterized prenatal genetic testing for Down syndrome not as a method for informing parents, but rather as a “search and destroy mission.”
Some people choose to abort the pregnancy out of fear for their future in “the face of broader prenatal testing that could sharply reduce the number of those born with the genetic condition.” The concern is that if fewer and fewer children with disabling genetic conditions are born, a child with such a condition will be more isolated – part of an even smaller minority within the population.
A Path Forward
One path forward is through genetic counseling to present a thorough and accurate description of the whole picture of what life with Down syndrome is like to parents when they learn that they are expecting a child with Down syndrome.
Some contend that genetic counseling for parents expecting a child with Down syndrome should fully inform them about quality of life for individuals with this syndrome, as well as the variety of support services available.
Genetic counselors “provide information and support to families who may be at risk for a variety of inherited conditions… review available options for the family… provide supportive counseling to families, serve as patient advocates, and refer individuals and families to community or state support services.”
Information on quality of life for individuals with Down syndrome and their families would be provided, along with information about medical issues associated with the diagnosis. Expectant parents should receive information on the range of possibilities regarding the family experience of raising a child with Down syndrome using nonjudgmental terminology.
This would include information about the health conditions associated with Down syndrome, such as increased risks of heart defects, dementia and obesity. It would also note that individuals with Down syndrome lead full and fulfilling lives, possibly including opportunities to participate in higher education, join the workforce, live independently and more.
Furthermore, complete genetic counseling would point out that there may be a wide range of positive impacts on families who have a child with Down syndrome, and that some parents of children with Down syndrome find that raising a child with Down syndrome brings the same joys and challenges as raising any child, celebrating the child’s unique strengths and weaknesses.
The issue of prenatal genetic testing generally, and testing for Down syndrome in particular, is ethically complex. Screening and diagnostic tests for Down syndrome are now recommended for all expecting mothers, and the technology of testing for Down syndrome and other conditions is likely to continue to advance. The ethical dilemmas surrounding this issue will continue to be faced by prospective parents and by society at large.
- National Down Syndrome Society is advocates for the value, acceptance and inclusion of people with Down syndrome.
- The Down Syndrome Diagnosis Network supports parents who have recently received a diagnosis for their child or unborn baby by connecting them to other families touched by Down syndrome.
- The Lurie Institute for Disability Policy at Brandeis University has a mission to promote inclusive and effective policies that improve the well being of children and adults with disabilities and their caregiving families.
- The Genetic Counseling Program at Brandeis University trains genetic counselors.
A Special Note
This Ethical Inquiry is not medical advice nor is it a comprehensive set of information about these issues and related concerns. Do not make medical decisions on the basis of this article. Consult your physician and/or a qualified genetic counselor.
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This installment of "Ethical Inquiry" was researched and written by Leah Igdalsky ’14. See other “Ethical Inquiries” authored by Igdalsky: "Exploring the Ethics of Solitary Confinement", “How Should I Choose My Commitments to Causes?”, and "The Ethics of Advocacy: KONY 2012".