Dr. Jerome Lejeune was deeply troubled that his discovery of the genetic cause of Down syndrome would lead to the abortion of children with Down syndrome. He dedicated his life as a researcher, physician, and advocate to fighting against this threat, and the Jerome Lejeune Foundation has continued that work since Dr. Lejeune’s death in 1994.

Recent market projections have indicated that the prenatal testing industry will grow at about 37% each year over the next four years, and be valued at over $8 billion by 2019. But what does that phenomenal growth indicate as the future for those conceived with Down syndrome and other genetic anomalies?

That market growth is largely being driven by the introduction in October 2011 of so-called noninvasive prenatal testing, or cell-free DNA testing (cfDNA) – a screening test that can be given as early as 10 weeks, with claims by the manufacturers of near perfect accuracy. It is expected that the use of prenatal testing will increase with these tests, and many fear the frequency of termination following a prenatal test will increase as well.

Research published over the last few months has clarified the effect prenatal diagnosis has had on the Down syndrome population in the U.S. One study in the American Journal of Medical Genetics by Gert deGraaf, Frank Buckely and Brian Skotko showed that between 1974 and 2010, the Down syndrome population in the U.S. was reduced by 30% because of the availability of prenatal testing and abortion.

A story published in the Boston Globe in December 2014 by the New England Center for Investigative Reporting exposed the danger the newest type of prenatal screening has caused. The investigators showed that some women consider this new screening test as diagnostic; and therefore, make the decision to abort a pregnancy without having the results of the screen validated by a truly diagnostic test, such as amniocentesis. In one study the authors reference, 22 out of 356 women who were told they were at high risk following a cfDNA test aborted without confirming the result. Stanford University reported that there were at least 3 cases of women who chose to abort and later discovered that the cfDNA test was wrong. They had aborted a typical fetus!

As did Dr. Lejeune, the Jerome Lejeune Foundation strongly believes in the positive potential of research to remove the reasons one would choose to abort a child prenatally diagnosed with Down syndrome. We also believe that if families were told the whole truth of what life is like with a child with Down syndrome, far fewer would ever make the decision to abort.

Jerome Lejeune Foundation is deeply committed to research, like that being done by Dr. Diana Bianchi and her team at Tufts University, into prenatal therapies. Perhaps one day soon, early cfDNA testing will provide a window of opportunity to prenatally treat a fetus diagnosed with Down syndrome, allowing these children to be born with far greater potential than is now possible.

The Jerome Lejeune Foundation has also worked to pass so-called Down Syndrome Prenatal Education Laws, like “Chloe’s Law” in our home state of Pennsylvania, which requires that women who receive a positive prenatal test be provided good, peer-reviewed information about all the potential outcomes of having a child with Down syndrome – including the abundance of good news that is available.

Can you imagine what it would be like to live with a condition that you knew was so feared that people would do all they could to avoid it – even to the point of refusing a child through prenatal diagnosis and abortion?

Karen Gaffney, a young woman living with Down syndrome, who has swum the English Channel and the San Francisco Bay, adamantly said in a recent TEDx talk that “All lives matter,” and that the future for people like her is uncertain given what is taking place in prenatal diagnosis. She said the race is on to discover better and faster ways for prenatal diagnosis, and that doctors continue to counsel patients with old data that reflects the past and ignores the present. At one point, she challenges the audience to “save our lives!”

Karen’s challenge is a challenge that we take up every day. As Dr. Jerome Lejeune used to say, “the only way to save them is to cure them.” We invite you to join in our determination to save lives prenatally diagnosed, and to improve the lives of people living with Down syndrome by supporting the Jerome Lejeune Foundation’s mission of research, care, and advocacy with your financial gift.