Sequenom releases Down syndrome test; will babies with Down syndrome become extinct?

The new test is aimed directly at unborn babies with Down syndrome as its name suggests MaterniT21. T21 is the nickname for trisomy 21, the true name of what we call Down syndrome because they have three copies or trisomy of the 21st chromosome.

Two years ago, Sequenom said it had this test ready but it seems some of their employees deliberately skewed the results, causing an investor crisis. Their stock plunged to $3 a share from $28. Apparently prenatal tests are big business, and the company plans to target 750,000 "at risk" women. At risk for having a baby like my nine year old Christina (see our portrait) If only they knew what they were missing!

But starting today, a woman can for a $235 co-pay, have her blood tested at 10 weeks gestation to know with 99% accuracy if her baby has trisomy 21. At the present time, early screenings like the Quad and Triple Screen blood tests are very unreliable, as is the sonogram called the nuchal thickening (which looks at the extra fold of skin on the neck characterizing trisomy 21). This is causing journalists to laud this new test as a life saving breakthrough. The New York Times says as much in its article

"New tests are coming to market that can detect Down syndrome in a fetus using a sample of the mother’s blood, potentially reducing the need for riskier invasive tests while also stirring ethical concerns."

But for the babies who test positive for Down syndrome, there is a 92% chance they will not live to be born.

Dr Brian Skotko warns; "“The number of American women who will have to grapple with this information prenatally will substantially increase,” said Dr. Brian G. Skotko of the Down syndrome program at Children’s Hospital Boston. His sister has Down syndrome, he said, and he pointed out that these tests could encourage more people to end their pregnancies, causing a decline in the numbers of people with the condition and leading to diminished support for them."

This is exactly the dilemma faced by researcher Dr Alberto Costa, whose daughter has Down syndrome. He is fighting for funds in a limited pool of research grants to test memantine, an Alzheimer's drug which when injected into mice with a form of trisomy 21 causes immediate increases in their ability to learn, equaling their typical counterparts. Now there is tremendous enthusiasm, in the research community that a treatment for the cognitive delays of Down syndrome will be found soon, within ten years. Clinical tests are being conducted in New Jersey for another drug developed by Dr William Mobley with similar spectacular results in trisomic mice.

“This was a disorder for which it was believed there was no hope, no treatment, and people thought, Why waste your time?” says Craig C. Garner, a professor of psychiatry and behavioral sciences and co-director of the Center for Research and Treatment of Down Syndrome at Stanford University. “The last 10 years have seen a revolution in neuroscience, so that we now realize that the brain is amazingly plastic, very flexible, and systems can be repaired.”

So, just as there is amazing progress to make life better than ever for people like my daughter, this test comes crashing down on us to destroy our hopes, by threatening to make children like Christina virtually extinct. Why? Because if the investors think there is more money to be made in preventing babies from being born, none will invest in these drugs to make learning and memory normal for people like Christina who has difficulty speaking but is learning to read and write.

"Costa, like others working on drug treatments, fears that the imminent approval of those tests might undercut support for treatment research, and even raises the possibility that children like Tyche will be among the last of a generation to be born with Down syndrome.


“It’s like we’re in a race against the people who are promoting those early screening methods,” Costa, who is 48, told me. “These tests are going to be quite accessible. At that point, one would expect a precipitous drop in the rate of birth of children with Down syndrome. If we’re not quick enough to offer alternatives, this field might collapse.” (NYTimes Magazine)

So we are faced with a choice, either use medical science to conduct high-tech eugenic search-and-destroy missions for those babies we deem 'life unworthy of life' or use it to enhance the lives of 400,000 Americans who have Down syndrome, and give hope to the 750,000 moms who might be carrying a baby with trisomy 21.
  The choice is ours. Our answer will tell a lot about the type of civilization we are.