Quick, Easy Blood Test Could Replace Amniocentesis


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


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nonmember avatar acm

I just took a new blood test that replaced the amniocentesis. Materniti21 and it tested for the 3 chromosome disorders and a variety of other tests. I missed the window for the first trimester tests and am considered a little high risk because of my age (34).
I wanted to be prepared, no matter what, but also agreed with my husband that we would not abort a child with disabilities. 2 vials of blood and 1 week later we had our results. Everything is fine!

nonmember avatar B.

I opted for the MaterniT21 test as well. After 2 years of trying without success and being 43 years old, I wasn't willing to risk something invasive, even though I'm at one of the best hospitals in the country.

While it doesn't rule out all genetic issues like CVS or amnio would, it ruled out the ones we were concerned with. And combined with the results of the other, standard blood tests and NT scan all being normal, I'm happy with this decision.

Blues... Blueshark77

Sounds very promising, although I would still be concerned about false positives. Even if they did find something I don't think it would make me change my mind about my pregnancy. My 2nd cousin has Down's Syndrome and he is such a happy guy and his family just love him to bits. He can do things I can't, like skiing and sign language. 

I turned 35 in the middle of my pregnancy, right around the time they want to check for disorders. My nuchal translucency ultrasound didn't show any problems, and they calculated the odds of something being wrong with the baby was 1 in 78,000. Despite this they kept pushing the aminocentesis with the miscarriage rate at 1 in 200-400. I refused to do it, but they kept saying "well, you're 35, you really should do it". NO! 

Lesley Rae King

I had this new blood test, too. I am 37for and now in week 18 of my third pregnancy. At 12+ weeks, I went in for the first trimester ultrasound (mostly because of my "Advanced Maternal Age", but also to ease my mind about carrying a second set of twins. I was due for a blood draw anyway, to test for maternal diseases, etc., and they offered this to me. My insurance covered it, so I agreed. Everything turned out negative and just fine - but they were also able to tell me the baby's gender DEFINITIVELY at 12 weeks!

Katy Themm

This article title is very misleading. Genetic testing and screening is not the only reason women get amnios done. This blood test would never be able to replace an amnio completely for diagnosing the maturity of the baby.

augus... augustmama_x2

I had both done at different points in my pregnancy. My son had a fetal syndrom called CCAM so it was necessary. Amniocentisis is painful and so is amnioreduction. 

Trish... Trishintraining

I think it's awesome for those who opt for the tests, especially since it takes away the miscarriage risk. My husband and I decided after much discussion to not have any testing done with my son because to us it wasn't going to change anything. If I were at high risk I'd definitely shell out the extra cash for it. 

nonmember avatar Bailey

I'm one of those that wants total control of my pregnancies. I do not permit anything beyond certain blood and urine tests. I even forbid glucose testing. No way would I ever consent to DNA testing for defects. I'm 17 weeks with my third and turned down all testing again. I personally feel that it's unnecessary, and I won't take unnecessary risks with my children.

nonmember avatar Archer

I'm gone to say to my little brother, that he should also pay a quick visit this
website on regular basis to get updated from most recent reports.

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