New, non-invasive test for chromosomal abnormalities « Back to Group Discussions

[porcelina]

One of my girlfriends mentioned her doctor offered a new test that used mom's blood, but predicted with 99% accuracy the presence of Down's and also a couple of other abnormalities. The false positive rate is much lower than the other screening tests, at 0.1%. It can be done at 10 weeks. However, apparently a lot of insurance companies don't cover it yet since it's new.

Here is an article with some info:

http://articles.marketwatch.com/2012-06-05/finance/32033722_1_blood-tests-amniocentesis-screening

While I am inclined to skip all of the other testing, I might do this one...for my DH, who is worried.

[nstewart]

Sounds interesting!  I wonder how widely available this is, and if it is available outside the US.

[snozzberry]

Thank you for sharing this! It looks like LabCorp has a couple locations in my area, so I'm going to ask my doctor at my 8-week appointment if they could order the test and how much it would cost.
 

[Quinalla]

Thanks for this, I will have to ask my OB about this too. I declined the screening tests last time as I knew I wouldn't do amniocentesis just based on those high false positive screening tests and zero risk factors.

[Mamma Mia]

I've heard great things about this test, although it's extremely expensive!  Unfortunately, it doesn't test for the chromosomal abnormalities my little buddy is at risk for, so I'm stuck with deciding between CVS and amnio. 

[Quinalla]

Originally Posted by Mamma Mia 

I've heard great things about this test, although it's extremely expensive!  Unfortunately, it doesn't test for the chromosomal abnormalities my little buddy is at risk for, so I'm stuck with deciding between CVS and amnio. 

Bummer, but if I was in your shoes I would do the DVS and amnio since your buddy is high risk. Those tests are there for a reason, they just shouldn't be used routinely IMO.

[porcelina]

Originally Posted by Mamma Mia 

I've heard great things about this test, although it's extremely expensive!  Unfortunately, it doesn't test for the chromosomal abnormalities my little buddy is at risk for, so I'm stuck with deciding between CVS and amnio. 

Wow, that is going to be a hard one! Make sure to get the specific stats for your doctors on the miscarriage rates they experience (not some general statistics). If they perform one more than the other, that one might be your best bet, as they will have more experience with it. 

And how expensive?? Haven't talked to my doc yet.

[Mamma Mia]

If you have an 80/20 PPO it should be $235, I believe. That means it's over $1K if your insurance won't cover it!

[porcelina]

Wow! Seriously expensive!! Thanks for the info. I need to figure out what my insurance covers.

[snozzberry]

Originally Posted by porcelina 

Wow! Seriously expensive!! Thanks for the info. I need to figure out what my insurance covers.

What's the best way to go about that? Send a detailed question directly to your insurance company? Or is it better to start with your caregiver and have them find out?

[porcelina]

I was just going to call them up on the phone with any detailed questions, but even more basic than that, I was not sure what my new insurance covers in terms of out of network. Looked it up in the policy documents and I think it only covers 50% out of network procedures

[porcelina]

Hey everyone. I found this article that says the out of pocket cost for the Sequenon MateriT21 test (for Down's and I think 2 other genetic abnormalities) would be no more than $235 if you are privately insured.

http://paternitytestingdna.org/new-tests-can-detect-down-syndrome-in-a-fetus-using-a-sample-of-the-mother%E2%80%99s-dna/
 

I also found this thread on babycenter where a lot of women have told their stories:

http://community.babycenter.com/post/a31840675/post_here_if_you_have_had_the_test.

[nstewart]

So I am having a really difficult time finding information on this test in my Province.  I am booked for a first trimester screening (blood work plus nuchal ultrasound) so I will just have to hope for good results and if I have any concerns afterwards see what my options are at the time.  I guess the great thing about public health care is that I don't have to pay for any of my medical care or tests, etc. but the disadvantage is that you can't always chose what you want in terms of tests, etc.

Edited by nstewart - 9/18/12 at 3:21pm

[porcelina]

nstewart, yes, this is exactly the trade-off!

From what I can tell, the company rolled out this test with limited U.S. cities at first, and then expanded. Why don't you try calling Sequenon and ask what your options might be from Canada? It might be a long-shot, but maybe they already have something in the works. Or, like you said, you could just wait for the first trimester screening results and then pursue it from there. But, if there are some hurdles that you would need to get past, having extra time to get through them might be good. Good luck!