New method to detect Down Syndrome

By Razib Khan | February 24, 2009 5:23 pm

New Safety, New Concerns In Tests for Down Syndrome:

The new tests take advantage of techniques that can isolate and analyze tiny bits of genetic information from the fetus that circulate in a woman’s bloodstream, in this case from cells or free-floating snippets of DNA or the related molecule RNA.
At least four companies are developing such tests, including Sequenom of San Diego, which plans to be the first on the market in June. The other companies hope to have their versions on the market within a year.
“For 50 years, folks have been working to develop a noninvasive genetic test for Down syndrome,” said Sequenom chief executive Harry Stylii. “People have described it as the Holy Grail of genetic testing. We are on the cusp of delivering that.”
At a meeting of the Society for Maternal-Fetal Medicine in San Diego last month, the company reported that results from 858 women showed that its test did not miss a single case of Down syndrome and produced only one false alarm, making it much more accurate than the currently available screening tests and on a par with amniocentesis.

At the current rate Genetic Future should rename itself to Genetic Present.
Related: Down syndrome and abortion rates.

  • dev

    I found this quote from Brian Skotko a bit strange: “Every day my sister teaches me lots of life lessons … If there were a world with fewer people with Down syndrome, I think the world would miss all these important lessons.” I’m sure he didn’t mean it this way, but this comes close to valuing people with Down syndrome not as human beings in their own right but rather for their value as object lessons to others.

  • Donna B.

    dev, I didn’t read it that way. It sounded to me like the valuable lessons were along the lines of don’t take yourself so seriously, and the gods know most of us could use that lesson at times.

  • B.B.

    Looks like you have left out an italics tag.

  • Roxane

    Would you care to share this innovation and any other intriguing content you may have with others on another blog? The Canadian BioTechnologist 2.0 Blog is a communal effort devoted to the productivity of the Canadian Biotechnology sector and the fine people who take part in this profession. We are inviting bench scientists and technologists to contribute content: posters, tools, research, presentations, articles, white papers, multimedia, music downloads and entertainment, conference announcements, videos etc. Additionally, we are interested in publicizing the work of your organization. Generally, we are looking for 250 – 500 word articles.
    Please feel free to visit the blog.


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About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at


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