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Simple Blood Test To Replace Amniocentesis?

Researchers On Verge Of Major Breakthrough

POSTED: 4:53 pm EST November 5, 2009
UPDATED: 7:49 am EST November 6, 2009

Newborn Alisa and her twin brother, Quinn, get plenty of sleep these days. But their mom, Kirsty Mancino, lost some sleep while she was carrying them.

Pregnant and 42 years old, Mancino was worried one or both might have a genetic abnormality like Down syndrome.

"I remember thinking, 'Gosh, if I don't know, the rest of this pregnancy is going to be torture for me,'" Mancino said.

Any age over 35 is considered "advanced maternal age" and puts a woman at higher risk for bearing a child with certain birth defects. So for all three of her children, the Chesterland mom decided to have amniocentesis.

The test involves a long needle being inserted into the abdomen to check for birth defects in the fetus.

Mancino said, "For me, I needed to know what to be prepared for."

Elliot Philipson, her high-risk obstetrician at the Cleveland Clinic, said it's rare for a woman to miscarry after tests like amniocentesis or corionic villus sampling, but it can happen.

But, just the needle used for amniocentesis can be a deterrent.

For those reasons, Philipson said the no-risk, non-invasive nuchel translucency test has had a profound effect on his practice since it was introduced in 2006.

"It has decreased the number of CVS and amniocenteses that I do by 30 percent," Philipson said.

So the idea of a simple blood test to replace procedures like amniocentesis is extremely promising.

Philipson said, "Last year, I thought we were very close to it, but as it turned out, we were much farther away than we thought."

A company in San Diego California got in trouble for mishandling data associated with the test, and that dashed a lot of hopes for this potential breakthrough.

But similar blood tests are being investigated in places all around the world. While no one knows for sure when the test might be available, the consensus in the medical community is that it's coming.

"I think it would be a great advance in our technology," Philipson said.

The research comes too late for moms like Mancino, but she's hoping the blood test will be an option for other women who want to put their fears to rest, which is what amniocentesis did for her.

Mancino said, "It really did make the rest of the pregnancy just very peaceful, because I knew everything was OK."



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