Quick, Easy Blood Test Could Replace Amniocentesis

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pregnant bellyTesting during pregnancy -- it becomes such an issue full of questions and doubts. There are sonograms, and of course more invasive procedures like amniocentesis and chorionic villus sampling (CVS), which could supply very helpful information or fill your head with worry. The issue with amnio and CVS is when performed there is a risk of miscarriage. A risk, even if slight, is too great for some to agree to. Each year, about 200,000 women have an amnio, with a miscarriage rate between 1 in 400 and 1 in 200. CVS not only has a rate between 1 in 200 and 1 in 100, but there is risk of infection, and very, very rarely birth defects. No one thinks of these things when trying to conceive.

There's a new test and all it requires is having some blood taken to scan for the three most common chromosomal disorders. 

It's called cell-free fetal DNA testing, and there are no risks in a blood draw. The makers believe that in the future, they will be able to review the findings to scan for a larger range of genetic defects, right down to the baby's DNA. Because the blood stream of a pregnant mom is full of genetic material from the baby growing inside her. Isn't that nuts? We are truly one with our child.

What's also great about this test is it can be performed as early as six weeks, though they prefer 10 weeks because DNA levels are higher then. Anmio usually is done between 16 and 18 weeks, CVS around 12 weeks. Normal results will give expectant parents a calmer mind sooner. Pregnant mamas don't need extra anxiety.

The American Congress of Obstetricians and Gynecologists recommended this new test for patients over 35 and those with a history of trisomy pregnancies. Insurance has yet to fully cover it and some doctors have never even heard of it yet. But you can request it if you are willing to pay.

For those who think this "easier" test will increase abortion rates, one genetic counselor doesn't believe it would. Lucile Packard of Children’s Hospital in Palo Alto, California told Wired: "You’re only adding babies that wouldn’t have been seen before — say, in a 22-year-old woman who wouldn’t have been screened in the past. They’ll be added to the pool to make a decision. You’re looking at a small group to begin with."

It's been said that many families who do have children with special needs prefer to know ahead of time so they can learn as much as they can before baby arrives. I think anyone given a Down Syndrome diagnosis needs to read this post about the joys experienced in families who live it. Still, some may want to abort the pregnancy if there is an issue. But remember, there is always room for error, mistake, misread paperwork, a wrong diagnosis.

The researchers are also saying how they could learn how to test for over 20 disorders. But will that number rise? Will we soon be able to learn that a baby in the womb is going to have sickle cell anemia or something like the BRCA1 or BRCA2 gene associated with breast cancer? Could this end up giving us too much information with too many variables causing us to become an even more worried society?

And as any parent of any child will tell you: Our kids always surprise us. They do things we didn't think they could do, they push limits and make us proud in profound ways. Maybe we don't need to know if something is "wrong" with them when they are in our bodies.

What do you think of this test? Would you get it? Do you think too much testing is troublesome?


Image via David Boyle/Flickr

tests & procedures, tests