Expectant mothers can test to determine the risk of Down syndrome in their baby before the baby is even born. The current process involves a combination of ultrasound and blood test. Women who are found to be at high risk of having a child with Down syndrome can then go on for further testing.
The more invasive tests have their problems. In 1 percent of cases, the tests actually produce miscarriage. Women who are flagged by the initial blood test may experience unnecessary worry or stress until the more conclusive test is performed. And even then, the tests are still failing to identify Down syndrome in about 15 percent of cases.
A new technique, called cell-free DNA or non-invasive prenatal testing, both reduces the risks and increases accuracy. This new testing, which is based on counting DNA in the mother’s blood, is touted to have 99 percent accuracy with no invasive procedures needed. The test can screen for trisomy 21, commonly known as Down syndrome, which can result in delays in development, impaired intellectual functioning and increased risks of certain medical conditions. The test also can identify trisomy 18 and 23, other chromosomal abnormalities often resulting in infant fatality.
The test seems like a win-win: more accurate information for expectant parents with fewer false positives and risk of miscarriage. However, not everyone thinks the tests are without negative consequences.
Many families would appreciate having advanced information of their child’s risk for disability, so they can begin gathering the resources and support systems they will need to provide the best possible care for their child. They can begin researching early-intervention services, start networking with other parents of children with Down syndrome and look into how their local schools include children with disabilities.
There is the chance, though, some families may choose to use the information provided by the test to end the pregnancy. Some critics have also pointed to the slippery slope – the screening tests for trisomy may grow into more complicated genetic testing that could produce genetic selection, the stuff of Brave New World.
The questions and concerns raised by the testing simply mirror the philosophical question of how we look at disability in our culture. Is disability a problem to be corrected? Or is disability a natural difference, like the differences in the color of our skin or the length of our toes?
For those of us who believe disability is a natural part of life, it is difficult to imagine a world without individuals with Down syndrome. People with Down syndrome have been poets, artists, athletes, actors, teachers and, over the years, have made unique contributions to our society.
Although science can give us better and better means to access information, it cannot tell us what we do with that information. That is a conversation we must have as a society. If we don’t, future generations may be missing a part of what makes us whole.
Tara Kiene is the director of case management with Community Connections Inc.