Monday, January 7, 2013

This Simple Blood Test Reveals Birth Defects — And the Future of Pregnancy | Wired Science | Wired.com

This Simple Blood Test Reveals Birth Defects — And the Future of Pregnancy | Wired Science | Wired.com:

'via Blog this'Weiss’ own child was born perfectly healthy. Not long after, she and her husband started trying for a second baby. But she had a miscarriage. And then another. The second miscarriage was the result of triploid syndrome—the fetus had three of every chromosome instead of the normal two. So when Weiss, a 32-year-old lawyer turned stay-at-home mom in Westchester, New York (her name has been changed for this story), got pregnant again, her doctors watched her closely. “We did a lot of ultrasounds,” she says. “Everything looked like it was going well.”
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Many women with high-risk pregnancies (which also includes women over 35) elect to undergo amniocentesis or chorionic villus sampling—invasive procedures that check for chromosomal abnormalities but carry with them a risk of miscarriage. Weiss says there was “no way in hell” she was going to do that. She didn’t want to risk losing another baby. Well, said her doctor at her 10-week office visit, we’ve got this new test that checks for the most common chromosomal disorders (like Down syndrome). All it requires is a blood draw. And you can do it right now. The test was so new, in fact, that Weiss was one of the first patients in her doctor’s practice to have it.
A week or so later the doctor called. The baby had Down syndrome. “We were obviously shocked,” Weiss says. “Even the doctor was shocked.” Weiss then had a chorionic villus sampling performed, on the remote chance of a false positive. It confirmed the blood test result, but she and her husband were already resigned to what was to follow. She says she needed to talk through the decision to end the pregnancy, but her husband never had any doubt. “His coping mechanism was just to be done with it,” Weiss says. But for her, it was a bit different. “You hear this news and you make your decision. But meanwhile you’re still pregnant. I mean, I was still nauseous.”

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