Skip to Content

Category: Down syndrome

Research reported in the New England Journal of Medicine this week has shown that prenatal diagnosis with gene chips is superior to conventional chromosome analysis in detecting many kinds of abnormalities in a developing fetus. This is not a big...

Research reported in the New England Journal of Medicine this week has shown that prenatal diagnosis with gene chips is superior to conventional chromosome analysis in detecting many kinds of abnormalities in a developing fetus. This is not a big surprise--one would expect that taking a closer look at the genes would reveal more problems. But it was a tricky story to cover; the details are important.

Marilyn Marchione of The Associated Press backs in to the story, reporting in her second graf that "a surprisingly high number - 6 percent - of certain fetuses declared normal by conventional testing (known as karyotyping) were found to have genetic abnormalities by gene scans," she wrote. That was the news. Her first graf began with a likely consequence of...

The idea that older women have an increased risk of having a child with autism has received a lot of press. Many women trying to juggle families and careers weigh this carefully while making their plans. The medical profession did a good job getting the word out on this.

What is not generally known, however...

The idea that older women have an increased risk of having a child with autism has received a lot of press. Many women trying to juggle families and careers weigh this carefully while making their plans. The medical profession did a good job getting the word out on this.

What is not generally known, however, is that children of older fathers also face increased risks of certain illnesses, including, notably, autism and schizophrenia. That has been known to researchers for some time, but medicine has done a terrible job of getting the word out on fathers. A paper appearing today in Nature, however, has attracted a lot of attention and could begin to change that.

Over at The Wall Street JournalGautam Naik is a little bit fuzzy about what precisely is new in the Nature paper; he mostly discusses...

Andrew Pollack reports in The New York Times this week on a new kind of genetic testing that can reveal more...

Andrew Pollack reports in The New York Times this week on a new kind of genetic testing that can reveal more abnormalities than the standard tests done to examine fetuses during pregnancy.

The test uses a gene chip to scan for a wide variety of potential problems, he reports, but "it is not always possible to tell whether a small abnormality detected by the chip will be harmful to a child, or if so, how severe such a problem will be." It's a solid story, and nobody else seems to have written it (with one exception; more about that in a minute). This appears to be a scoop by the Times. 

But it isn't. Pollack reports that the findings, which he says have not yet been published, were presented in February at a meeting of the...