Healthcare Technology Featured Article

April 27, 2012

Prenatal Tests May Now Reveal Abnormalities Earlier, But Complicate Decisions More


It took the devastating loss of his sister’s baby to undiagnosed Down Syndrome to help a young Silicon Valley entrepreneur look for the answer to preventing anyone else from having to go through a similar heart-breaking experience.

According to a story by Mara Hvistendahl, Matthew Rabinowitz decided that information technology just might hold the crystal ball.

That was 2003. Rabinowitz’s sister had all the usual testing but something was missing, Hvistendahl writes, adding that current methods of prenatal screening, contrary to what most pregnant women think, carry a significant margin of error.

“I saw that we were applying our information technology and signal processing to various aspects of life, including cell phones and laptops, but not enough to the area of helping parents have healthy children,” Rabinowitz told Hvistendahl.

He knew that a scientist in Hong Kong had recently found something that had the world of prenatal testing fascinated – “that a pregnant woman’s blood contains a small amount of fetal DNA,” Hvistendahlwrites. Accurate blood tests, it was thought, could possibly reveal much more information about the fetus as early as seven weeks of the pregnancy, instead of waiting the 20 or so weeks when amnio and other tests are usually done.

Having had two miscarriages myself not much later than seven weeks, it would have helped so much to know more before it happened that it was going to.

Rabinowitz founded Gene Security Network, later renamed Natera, according to the story, and among the tests the company would develop was one to diagnose Down Syndrome.

Compassionately named Parental Support, Hvistendahl reports that it’s currently in trials funded by the National Institutes of Health. And, of course, there will be money in it.

Hvistendahl writes that Natera is one of several companies hoping to bring to market fetal DNA tests, or noninvasive prenatal diagnosis (NIPD).

You might already have heard of this test, because it’s also used to determine fetal sex, and genes for diseases that could adversely affect the fetus, even cause it to die.

Natera has some tough competition. Hvistendahl says in her story that a West Coast company called Sequenom last fall came out with tests for Trisomies 13 and 18, abnormalities that reveal Down Syndrome, and right behind them was Silicon Valley-based Verinata, which entered the market with tests for the same conditions in March.

And what about Natera? Rabinowitz anticipates Parental Support will be available by the end of the year, and that his edge is that “Natera’s technology is more accurate than other tests,” according to Hvistendahl.

Why is everyone so excited? NIPD potentially eliminates the risks, like miscarriage, associated with amniocentesis, because that test is invasive; avoids the stress of not having enough accurate information, just probabilities, which, as anyone who has ever experienced scary diagnoses knows, robs you of your life until you know, and, perhaps the most important of all, provides more time for expectant parents to make difficult decisions.

But it’s not clear-cut. Hvistendah writes that no one is really focusing on the ethical issues involved. How to explain the test to patients? Which patients should be offered it? And what if your ob-gyn, who is not trained in genetics, fouls up when he’s explaining it to you?

And what about the decisions couples will have to make when they learn their unborn child has Down Syndrome? I have two friends who went ahead with a baby who they knew would be born with the Syndrome and they both say they could never have imagined their lives without this child.

Marcy Darnovsky, executive director of the Center for Genetics and Society in Berkeley, Calif., told Hvistendahl that NIPD will provide women with “enormous amounts of information about the fetus that they’re carrying at a very early stage. And it’s available at a time when you can terminate a pregnancy with a pill.”

Some experts predict a huge increase in fetal genetic tests done in the US, from fewer than 100,000 a year to about 3 million, Hvistendahl writes. And what it will do to the number of abortions performed is unknown, too.

Debbie Marsh writes that a 2000 study found that nearly 25 percent of physicians who explain prenatal test results are very negative about a finding of Down Syndrome, and some even encourage the parents to terminate the pregnancy. And she adds that a 2005 survey of mothers with Down Syndrome children found a similar bias within the healthcare community when such a child was born.

Hvistendahl points out that while the earlier-in-pregnancy tests are good news for many, “for the rest of us, things will get a lot more complicated.




Edited by Stefanie Mosca
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