The impact of prenatal testing for Down syndrome

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Brian Skotko, MD, MPP

By Brian Skotko, MD, MPP

I was recently asked by the editor of the medical journal, Archives of Disease in Childhood, to size up the impact of prenatal testing for Down syndrome. After reviewing research from around the globe, I learned that the number of babies born with Down syndrome has been steadily decreasing.  In the United States, alone, there would have been a 34% increase in the number of babies born with Down syndrome between 1989 and 2005, in the absence of prenatal testing.  Instead, there were 15% fewer babies born, representing a 49% decrease between expected and observed rates.

New prenatal tests for Down syndrome are now on the horizon, so I ask in my article, “Will babies with Down syndrome slowly disappear?” To ensure that all pregnant couples can make informed decisions about these new prenatal tests, I offer the following recommendations:

  • Professional medical organizations need to develop guidelines on how health care professionals should deliver a diagnosis of Down syndrome.
  • Current, accurate, and standardized informational packets about Down syndrome need to be distributed by a collaboration of medical organizations and parent support organizations.
  • A standardized training program should be created to train medical professionals on how to deliver a non-directive prenatal diagnosis of Down syndrome.
  • We need to begin training the medical professionals of tomorrow–physicians, genetic counselors, nurses, midwives–so that they have a richer understanding of life with Down syndrome.

I became interested in this topic after my previous research had demonstrated that not all expectant mothers were receiving accurate, up-to-date information about Down syndrome. I have a 29-year-old sister with Down syndrome, and I know that she is achieving more today than what physicians had initially told my parents to expect. Now, as a clinical fellow in genetics at Children’s Hospital Boston, I strive to provide balanced, accurate information to expectant couples, based on the possibilities and realities for people with Down syndrome today.

In working on this article, I realized how non-uniform counseling is around the country–and around the globe. I hope this article can serve as a springboard for discussion between health care communities and parent advocacy communities on how to anticipate the issues that are coming with new prenatal testing.

To read Stotko’s many other articles about Down syndrome, click here.

One thought on “The impact of prenatal testing for Down syndrome

  1. One of my concerns is the ways that prenatal testing is offered and how to develop enhanced strategies for helping women to decide whether testing feels “right” for them. I am currently conducting an NIH study of pregnant women ambivalent about testing to learn whether deliberate or less deliberate approaches to making a decision may be most useful. Our goal is to enhance the concordance of decisions with women’s values and beliefs. I do hope that you will consider posting this so that if pregnant women visit your site and are not certain whether they want to have prenatal testing, they will consider participating in our study. It takes about 30 minutes. Our goal is not to encourage decisions to be tested but rather to encourage women to make decisions that suit them.
    The survey is anonymous and available on-line at the following link:
    http://research.nhgri.nih.gov/SBRB/Prenatal/
    Thank you, Barb Biesecker

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