New prenatal Harmony Test can help expecting mothers detect birth defects

After having trouble conceiving, 41-year-old Susan Owen got the news that she would give birth to a son this summer.

But because of her age and fertility history, Owen wanted to make sure she would have a healthy pregnancy – and a healthy baby.

“I think every mom just wants to know as much as possible…and you want your child to be healthy and happy,” Owen, the single mom-to-be, told  “So I guess for me, any test that would tell me that sort of information, I applaud and need.”

Owen’s OB-GYN, Dr. Ron Wapner of New York Presbyterian Morgan Stanley Children’s Hospital, suggested a new way to give her some of the answers she was looking for – a simple blood test.

“In every pregnant woman, there’s a small amount of DNA from the fetus circulating in her body,” Wapner told  “Now, it doesn’t come directly from the fetus. It’s cells that have kind of shaved off the placenta.  So what the test does is it can analyze both the mother’s DNA, but it can also analyze the DNA from the fetus, and use that to make a prenatal diagnosis.”

One new tool is the non-invasive Harmony Prenatal Test, which can detect birth defects as early as 10 weeks into a pregnancy.  Fetal trisomies, in which there are three instances of a particular chromosome, rather than the normal two, can cause babies to acquire developmental disorders such as Down syndrome or Trisomy 18.

“If you have genetic risks or you just really want to understand what those risks are, you should talk to a genetic counselor, and then they can help you balance those,” Wapner said.  “And there’s other decisions: ‘Where do I want to deliver the baby? What resources are needed? Can I talk to somebody about what to expect for the first couple months of life?’ That information is incredibly powerful and important.”

For Owen, the test was simple and put her at ease.  The Harmony Test is over 99 percent accurate for detecting Down syndrome, but although the test is incredibly reliable, Dr. Wapner said that nothing is 100 percent accurate.

“There are false positive tests with non-invasive (procedures),” Wapner said.  “No woman should get a result from the blood test and make a decision about the pregnancy without having confirmation by an invasive test.”

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