The End of Down Syndrome?

This week, a new prenatal test came on the market in Boston and 19 other cities across the country that allows pregnant women to provide a simple blood sample in order to determine whether her fetus has Down syndrome. The test, MaterniT21, is produced by Sequenom and can be taken by women as early as 10 weeks into their pregnancy. It has been touted as an alternative to amniocentesis and chorionic villus sampling, both of which are invasive and painful procedures that in some cases can result in miscarriage.

But with the release of the new test also comes a host of ethical questions. Currently, only two percent of women nationally undergo some kind of prenatal testing for Down syndrome (most are older or considered high risk), but 80 to 90 percent of those women who do take the test decide to abort the fetus. With the relative ease and accessibility of the new test — which can be requested by patients and must administered by doctors — many physicians worry that more women will be facing challenging ethical decisions without being fully informed about what having a child with Down syndrome actually entails.

Dr. Brian Skotko, a physician in the Down syndrome program at Children’s Hospital, and who has a sister with the condition, has found that many doctors provide patients with inaccurate — or even offensive — information about Down syndrome, and such misinformation can cloud judgement and decision-making about whether to have the child. What’s more, public perceptions among those unfamiliar with the condition still remain somewhat polarized; some see the it as a complicated and insurmountable problem, while others almost infantilize people with Down syndrome without fully understanding their full range of emotions and needs. (Skotko and his colleagues recently conducted a survey of 5,000 families with a Down syndrome family member to help the public better understand their experiences.) Skotko worries that the new test will result in fewer cases of Down syndrome in this country — thereby decreasing the funding for research and drugs that might help strengthen learning ability in his patients — and has even speculated whether this test will spell the end of Down syndrome once and for all.

“I think whenever there’s a new piece of technology, we really have to think and understand its power, but also its limitations,” says Skotko. “Physicians will have ensure that results are really understood by the family. There will be an increased responsibility and time commitment to make sure that they’re truly informed.”

For his part, Skotko is working with area hospitals through the Massachusetts Down Syndrome Congress (MDSC) to ensure that doctors who are administering the test are adequately prepared to discuss its ramifications and provide parents with the information they need to better understand the condition. What’s more, he says, the MDSC’s First Call program is a confidential hotline that allows parents who have recently learned about a diagnosis to speak to other local families and ask questions.

Ultimately, the decision about whether to administer the test lies with a woman and/or her family, and that’s a self-selecting group that may have preconceived notions about how much they want to know about their child before it’s born. But what we don’t yet know is how the test will shape the landscape of Down syndrome in the years to come.

  • Leticia Velasquez

    Thank you for presenting the positive side of parenting a child with Down syndrome; Dr Skotko is right, most women who receive a diagnosis of Down syndrome are offered a negative and dated portrayal of the condition. They are given no access to the hopeful comments researchers like Dr William Mobley of UC San Diego who is conducting clinical trials for a medication which is expected to normalize the learning and memory of those with Down syndrome.
    Thankfully advocates like Dr Skotko are working to change public opinion with the facts! I wrote about such efforts in this article.

    • Jeanne Zarrella

      I truly hope we will never see an end to Down Syndrome. The positive effects our daughter has had on our family far outweigh any negatives. She is a leukemia survivor as well, something more common in children with Down Syndrome yet adults with Down Syndrome DO NOT get solid cancer tumors as adults. Could they be the cure? Perhaps God has sent the answer to one of our most devastating illnesses yet we still do not see it. I know some research has been done…let’s do more.

  • Rick

    The potential and contributions of individuals far exceed what can be measured through genetic testing. The world, our communiites, our families, our relationships, are all enhanced by the presence of people with unique perspectives, such as those contributed by many of the individuals who have Down syndrome. I know that personally I am a better man because of my friendships with a variety of people, some of whom have Down syndrome or other ‘special needs’. I hope that our collective hearts and compassion overpowers the drive for corporate profits which will use fear of Down syndrome to compel expecting parents to have the test and possibly terminate their pregnancy. People with Down syndrome contribute to a society and culture that is better for us all.