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Genetic screenings/tests?

post #1 of 101
Thread Starter 
Hi all, I'm almost 9 weeks pregnant and I'm starting to consider my options for genetic testing. DH is a carrier of a genetic issue that is inherited from his family, so we will definitely do some screenings. I was just reading about the MaterniT21 test, which can be done as early as 10 weeks. It looks for 3 common trisomies (18 is the one we are at risk for) and the gender. I am pretty sure I will go forward with this screening, and if anything comes back positive I will probably go forward with the CVS test, which is more invasive. I'm just hoping that this screening goes well.

Is anyone else thinking about screenings or tests right now?
post #2 of 101
Hi! I also looked into that test for my last pregnancy--amazing they can do it with maternal blood and that's it. We were leaning towards doing it due to advanced maternal age (and to ease my DH's worries). (but pregnancy ended in miscarriage)

Guess its time to get on the ball with that testing this time around!
post #3 of 101

We'll definitely be doing the quad screen and nuchal scan. I want to be prepared in case of any genetic abnormalities, it's not something I would want to find out during delivery and have to adjust to in the postpartum period.
 

post #4 of 101

As I understand it the MaterniT21 gives actual results (close to 100% percent accurate), not more accurate probabilities, so there is no need for invasive CVS or Amnios.

 

I skip the early tests and just do the 20 week everything and a kitchen sink ultrasound.

post #5 of 101
Thread Starter 
Leigh, according to the info I found, MaterniT21 gives results with 98.6% accuracy. That's pretty darned close to 100%, so I'm sold.
post #6 of 101

I'll do the quad screen and nt/nb scan as well. I did it with my DD too. Around 11-12 weeks I think.
 

post #7 of 101

Once anyone does the MaterniT21 or Verifi (there's another one that tests the same way but I forgot the name) would you mind posting how much it cost you? I just read about these tests in a very interesting article in the Washington Post a week or so ago, and insurance doesn't typically cover them since they are still considered "experimental".  The article said they may cost $200-$400-ish.  I'll be curious to see if those of us in different locations pay different prices.

 

If anyone's interested in the article, here's the link: http://www.washingtonpost.com/national/health-science/a-new-prenatal-test-for-spotting-genetic-issues-is-less-invasive-but-its-pricey/2012/11/26/8dd799de-2780-11e2-b4f2-8320a9f00869_story.html

 

Thanks!

post #8 of 101
Thread Starter 
Greentoubab- I'll let you know after I get it done. My understanding is that with my risk factors, my PPO insurance should cover it, with my portion being about $250.
post #9 of 101
Hi- I read that it should not cost more than $235 out of pocket if you have insurance-- see link in here (in last few posts):

http://www.mothering.com/community/t/1363112/new-non-invasive-test-for-chromosomal-abnormalities#post_17114632
post #10 of 101

I am planning on the CVS test, I am AMA and we have a child with a genetic issue. FWIW I did the quad screen, the nuchal, and several level 2 ultrasounds and nothing showed up in her pregnancy. I have not heard of the other blood test, so I am off to look. We need to test for things other than the trisomies though, so I think CVS is our best route. I am hoping to have it done at 10-11 weeks. 

post #11 of 101
Quote:
Originally Posted by askew View Post

I am planning on the CVS test, I am AMA and we have a child with a genetic issue. FWIW I did the quad screen, the nuchal, and several level 2 ultrasounds and nothing showed up in her pregnancy. I have not heard of the other blood test, so I am off to look. We need to test for things other than the trisomies though, so I think CVS is our best route. I am hoping to have it done at 10-11 weeks. 

 

Does your daughter have an issue that is screened for in those tests? Or is it something different?

post #12 of 101

I'm not 100% sure. She mas a micro deletion on one of her chromosomes, and usually that shows up on the nuchal test, but there were no flags. They pointed out a lot of irregularities on her MRI in the NICU and none of those showed up in the level 2 ultrasound I had at 34 weeks. It was a bit mysterious. 


Edited by askew - 1/2/13 at 7:55pm
post #13 of 101

Hmm interesting. Thanks for sharing.

post #14 of 101

My CNM is suggesting I do both the quad screen and the MaterniT21 (I am 41).  I had checked with DH and he is for it so I'll probably go forward with both.

post #15 of 101
Here is the testing we'll be doing http://www.pacificfertility.ca/?page_id=17

It costs 525.00 as it's not covered by our provincial insurance.
post #16 of 101

Hi, I have a question, so I'm bumping this thread. I'm being told that I have to choose between doing the 1st trimester screen (Nuchal measurement + bloodwork) and a MaterniT21 type test. I can't do both, apparently, because it's seen as unnecessary and potentially confusing if results are mixed. Anyone else run into this?

I've had 4 miscarriages likely due to trisomies and I'll be 40 in a few weeks, so I'm inclined to get as much non-invasive info as I can. If I do have to choose just one, do any of you have thoughts about which I should pick? I would get the 1st tri screen results back sooner, but that's only one consideration. 

post #17 of 101
Thread Starter 
Is it an insurance thing that's making you have to choose? Most higher-risk moms I know use both the NT test and the MaterniT21 test if they're not doing the CVS. Honestly, I would still push to get both if I were you. It really helps to get two different tests for peace of mind. The MaterniT21 apparently doesn't charge you more than $235 if your insurance declines coverage- just a thought.
post #18 of 101

I don't think it's an insurance thing. My coverage is decent. I just think they are still of the mindset that the MaterniT21 test is a screening device on par with the NT, and if either test came back with any concerns, then you might go for CVS or amnio. They see doing both as muddying the waters, not as getting useful additional info. I'm surprised though, and it's frustrating. I'll still fight to do both, but if they won't go for it, I wonder who I would contact to get the MaterniT21 independently. It feels like a big bureaucracy - I guess I can't just walk into any lab and demand they send my blood to one of these companies. 

post #19 of 101
Thread Starter 
It would seem to me that you can choose to do extra testing if you really want it. And if they fight you, I suppose you could switch practices. To me, it's a no- brainer to give you the peace of mind that you are requesting. Especially after four losses, you get to ask for extra testing so that you are comfortable. That's just my opinion. :-)
post #20 of 101
I found out today that Canada has a VERY new (like in the last 2 months) version of maternit21 called Harmony available. It's not covered by our provincial insurance though and is 800.00 bucks. We just paid 525.00 for the fts so I'm not sure that I'll bother getting it....if my risk was higher I would consider it.
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