Genetic screenings/tests? - Page 2 « Back to Group Discussions

[greentoubab]

Originally Posted by thecoffeebean 

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.

I posted a link to an article in the Washington Post about these tests earlier in this thread.  They are not covered by insurance yet as they are considered "experimental" for the moment.  The article is really worth a read as it gives some good context for these tests and the huge demand for them since they are simple blood tests.  

[thecoffeebean]

Originally Posted by greentoubab 

I posted a link to an article in the Washington Post about these tests earlier in this thread.  They are not covered by insurance yet as they are considered "experimental" for the moment.  The article is really worth a read as it gives some good context for these tests and the huge demand for them since they are simple blood tests.  

I didn't really like the tone of the Washington Post article, as it sort if assumed that most pregnant women want these tests which are largely unnecessary. I don't think we all do. And those of us who are impatient for results probably have a good reason to be. I dunno, it just came off as patronizing to me.

[porcelina]

Originally Posted by carmen358 

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.

That's great! I know some Canadians from other DDC's were looking for info on it. But wow, $800 is steep!!
Edited by porcelina - 1/30/13 at 11:05am

[somegirl99]

I was going to just get one of the tests, but my MW suggested getting both as the MaterniT21 is so new.
 

[greentoubab]

Coffee bean, thanks for your perspective!

Falling into the AMA group, I was ecstatic to learn about the tests in the article because I was petrified with the prospect of having to decide whether to get amnio or not. Probably for younger women the demand is not the same (or unnecessary). And I was happy to understand the insurance context as I didn't understand why the test had to be so expensive.

[carmen358]

Originally Posted by porcelina 


That's great! I know some Canadians from other DDC's were looking for info on it. Bit wow, $800 is steep!!

It is steep - some places charge 1200.00 that includes genetic counselling. Apparently they are working with MSP (in BC) to get it covered for those that qualify for paid amnio but it's just not there yet.

[porcelina]

Originally Posted by tinynyota 

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. 

tinynyota, if you do end up having to pick, I would do the maternit21 test. The NT and bloodwork just give you a risk score, which can be way out of the ballpark in some cases with no reason. The chances of you having a problem are probably about the same as getting a false "positive" in the first place. I can't tell you how many people I know who got risk scores of 1 in 5 or 1 in 25 or 1 in 99 and all worried like crazy about it the whole time until they finally got an amnio and everything was fine. With the maternit21, you will have a yes or no answer with a very low inaccuracy rate. Of course, the con is that it is new and the accuracy rates are company-reported rather than based on third party studies of the test.  Another question is what would you do with the information? Would you get an amnio/cvs or are you dead-set against the invasive tests? If you are against them, probably another reason to go with maternit21. In my opinion, the nt and bloodwork just cause worry and yields very little information. You will presumably get the 20 week ultrasound in which they would measure the neck anyway and look for markers as well, so the NT really doesn't add much. (unless you would consider terminating, in which case having that information earlier rather than later would be best. Though, with a positive triscreening and even with a positive maternit21 test I would also want to confirm with an amnio since there is always a chance either is wrong.)

Just some thoughts! I hope you can get both!

[tinynyota]

Thanks for continuing the thread, everyone! Coffeebean, I'm glad to know that there are many others out there doing both tests. It makes sense to me, so thanks for the backup.  Porcelina, thank you for your thoughts - you put my vague ideas into much clearer arguments. I meet with the counselor tomorrow, and will either do the NT there and then, or will have blood drawn for MaterniT21 (although I think this clinic uses Verify) or possibly both, if I get my way. I'll let you know what happens.

[porcelina]

Hey everyone! I wanted to update as I met with the genetic counselor today. It was at a large, well known university hospital, and I was pretty surprised because they don't even recommend the sequential screening (NT and bloodwork) anymore! She said the maternit21 test has much more information, on 3 trisomies instead of just Down's, and a much higher accuracy rate. And, in addition to detecting the presence of the Y chromosome (sex), they are now reporting on sex chromosome disorders (xxy, x, xyy, etc).

Here are the figures:
Detection of Down's: 98-99%
Detection of 91-92% of the other trisomies
Detection of sex chromosome disorders: 96%
Rate of false positives: less than 1%

And, they report 99.6% accuracy for sex detection.

Now I just have to figure out if we will find out the sex! Kindof want to want the true surprise, but kindof want to know!!


Tinynyota, what did you end up doing?
Edited by porcelina - 2/7/13 at 4:56pm

[askew]

Those are about the same figures my GC gave, but stresses that the test is not diagnostic. Just a screening. She really wanted to stress that if you get a positive result you should have it verified with CVS or Amnio. Not make a decision based on that test alone. In the 7 months that have administered the test they have had two false readings. One + for T18 and amnio showed no trisomies. One - for Ds and baby on birth was found to have Ds. Still MUCH better than the quad screen and NT test. 

Good luck deciding about the sex. I am too much of a planner to wait, but I get the awesomeness of the surprise. 

[iloveoregon]

The MaterniT21 cost me $235.  And the results took almost two weeks (talk about suspense!). 
 

[porcelina]

Originally Posted by askew 

Those are about the same figures my GC gave, but stresses that the test is not diagnostic. Just a screening. She really wanted to stress that if you get a positive result you should have it verified with CVS or Amnio. Not make a decision based on that test alone. In the 7 months that have administered the test they have had two false readings. One + for T18 and amnio showed no trisomies. One - for Ds and baby on birth was found to have Ds. Still MUCH better than the quad screen and NT test. 

Good luck deciding about the sex. I am too much of a planner to wait, but I get the awesomeness of the surprise. 

Yes, very good point!! Mine also emphasized that it is NOT diagnostic; one would want cvs or amnio for a diagnosis if they received a positive result on the test.

Originally Posted by iloveoregon 

The MaterniT21 cost me $235.  And the results took almost two weeks (talk about suspense!). 

 

Also a good point -- my genetic counselor also confirmed that the exam costs $2700, but Sequenom guarantees the maximum out of pocket cost is $235. She also said you might get billed for much more (whatever insurance did not cover), but that if you call they will adjust it to the $235.
Edited by porcelina - 2/7/13 at 8:14pm

[somegirl99]

Originally Posted by porcelina 


Yes, very good point!! Mine also emphasized that it is NOT diagnostic; one would want cvs or amnio for a diagnosis if they received a positive result on the test.
Also a good point -- my genetic counselor also confirmed that the exam costs $2700, but Sequenom guarantees the maximum out of pocket cost is $235. She also said you might get billed for much more (whatever insurance did not cover), but that if you call they will adjust it to the $235.

Good to have that confirmed!  I got the insurance statement but not my bill.  Insurance company claims I owe almost $1k.

[porcelina]

Originally Posted by somegirl99 

Good to have that confirmed!  I got the insurance statement but not my bill.  Insurance company claims I owe almost $1k.

Yikes! That is a ton, and I am glad the counselor warned me that could happen because I would be freaking out if I got a bill for $1,000! Did you say you are having a girl in the other thread? (I think there were only girl announcements) If so, congratulations!! :)

[somegirl99]

Originally Posted by porcelina 

Yikes! That is a ton, and I am glad the counselor warned me that could happen because I would be freaking out if I got a bill for $1,000! Did you say you are having a girl in the other thread? (I think there were only girl announcements) If so, congratulations!! :)

Yes, and thanks!

[tinynyota]

Congrats Somegirl!

Sorry to take so long to get back on here. We met with the genetic counselor last Thursday and decided to do the NIPT (MaterniT21 type test. This clinic uses Verify). However, what they hadn't told me was that they still do the Nuchal translucency ultrasound as part of the process, even if you opt for the NIPT. When I had been told I could either do the NT or the NIPT, but not both, I had assumed that meant that I wouldn't get an US if I went the genetic blood test route. Getting the US as part of either test makes so much more sense!! You can get a lot of info from an ultrasound. Honestly, they really could have made that much more clear in the 2 phone conversations I had prior to our meeting, especially since I was pushing back hard on their "rules" about it. Sheesh.  Anyway, the nuchal measurements looked great, and I actually got the Verify test results back today. All negative - yay!!!

Interestingly, the clinic that orders the test refuses to ask for results about the sex, so I won't get more info until the 20 week US.

Porcelina, that is so interesting about their now getting info on sex chromosome disorders. Maybe I'll call the MFM clinic back next week and ask if that's something the Verify test does too. It may be too late to get my own results, but now I'm curious in general.

Now to wait for the insurance bill....

Out of curiosity, has anyone (in the U.S. anyway) paid the $235 using money from a pre-tax medical flexible spending account? I'm assuming I can, but maybe not.

[porcelina]

Tinynyota, that is great news! And wow, you got the info back very quickly, didn't you?? The counselor I spoke with said that the companies that do these tests are kindof trying to one-up each other, so I wouldn't be surprised if the other companies are not yet offering the sex chromosomal disorder results yet, since Sequenom only started in the last couple of months (and I think they are a "first-mover"). Also interesting you couldn't find out the sex -- ultimately, you're probably better off that way, because (if you want to find out) finding out at the ultrasound is much more cool than hearing it over the phone!

With regard to using your flexible spending account for a copay, I haven't done it, but I think that is totally legit and can't imagine running into any trouble with that! I definitely have paid co-pays in the past with a medical flexible spending account!
 

[thecoffeebean]

I just got my MaterniT21 test results back- chromosomes look great and we are having a BOY!

[mamapigeon]

Yay coffeebean! Congrats on your boy! I'm glad everything came back looking good.

And somegirl, congrats on your girl! I'm pretty sure I didn't post on the other thread.

[oregon2010]

Coffeebean--Great news! so glad you did not have to wait another day to find out the good news! Congrats! I bet you are so relieved!

I think I remember you and I having very similar cravings and pregnancies so you totally make me think I'm having a boy too.  What does your DD think?  Did she guess if she was having a brother or sister?  We decided we are going to find out this time but I have to wait 8 more weeks so I am passing the time by comparing symptoms and such to other people even though there isn't much science to it :) This is our last baby so on one hand, I would my DD to have a sister but on the other hand, it would be fun to parent a boy too.

Reasons I think I am having a boy:

--way less vomiting compared to my DD's pregnancy, just very nauseous, esp at night and food aversions that are starting to go away at 12 weeks

--more tired this time

--more headaches

--quicker weight gain

--hair growing faster

--different cravings--less sweets this time, more cheese and citrus and bread

--moodier this time

--we conceived on ovulation day (was charting)

--before conception, I had lots of CM, barely any before conceiving my DD

--husband comes from a strong family tree of boys

--I heard more boys are conceived after miscarriages and I conceived 2 weeks after a miscarriage

Anyway, I guess I will find out in 8 weeks!