Non-invasive Down syndrome test available next week

A new non-invasive test for Down syndrome will be offered in 20 cities from Monday. According to an article in the journal Genetics in Medicine, it picks up 98.6% of DS children and has a false positive rate of only 0.2%. This is a vast improvement on existing screening tests, whose false positive rate can be as high as 5%.

The test can be used as early as 10 weeks into a pregnancy. It will cost about US$1,900, and if insurers cover it, privately insured women will only be about $235 out of pocket.

Sequenom has named the test MaterniT21, ironic in view of the fact that nearly all of the children detected with the test will be aborted, a fact around which press releases from the company and the Warren Alpert Medical School of Brown University and Genetics in Medicine carefully tiptoed.

Down syndrome experts fear that non-invasive tests will eliminate Down syndrome children, even though a recent survey shows that nearly 99% of people with Down syndrome are happy with their lives and 79% of their parents. The test is being marketed even though some researchers believe that drugs may become available to treat the condition.

One scientist, Alberto Costa, told The New York Times Magazine: “It’s like we’re in a race against the people who are promoting those early screening methods. 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.’’

A cloud of suspicion hangs over Sequenom after a 2009 scandal. It was forced to announce that the results of another DS test could not be trusted because the data had been manipulated. Several executives were fired and the senior vice president of R&D, Elizabeth Dragon, was convicted of securities fraud. She had made "materially false and misleading statements" to inflate the company’s share price. 

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