So grateful I had MaterniT21 (NIPT) done! Here's why...

anonymousmotley

When I was told about this NIPT, I was super thrilled by the new technology!!!

Theeeeeennn...came the bill and I freaked the freak out!  Insurance covered it, due to my age, but since I have a high deductible I am responsible for $823.50.  I quickly regretted my decision to have the test. I really don't know if I would have done it, if I knew how much it cost.  The NT scan and AFP would probably sufficed. 

Today was my Anatomy Scan and they found Choroid Plexus Cysts in her brain.  I immediately start freaking out in my head (and I'm sure he could see it on my face), even though the Dr. started with "I hesitated to even tell you about this, I don't want you to panic unnecessarily because this is a non-issue".  He proceeded to tell me these are cysts seen better now, due to better ultrasound equipment and occur in a small percentage of pregnancies which reslove/go away on their own but is also linked to Trisomy 18. (WHAT?!...freak out intensifies)  The cysts are in the spongy part of the brain that collects the cerebral fluid and the cysts have no affect on the brain development. 

At this point, I am in a total panic.  Still pretty composed but my mind was going a million miles a millisecond!  And by this time, probably only 1-2 minutes have lapsed.  My mind is in WTF mode!  Then he assures me that since I've already had the blood test and we KNOW that the baby doesn't have any chromosomal problems, that he is certain this is a non-issue and I can rest assured that the baby is normal and the cysts will go away as she grows. 

All that panic happened and was resolved in a matter of minutes.  Had I not had that blood test done, I would be a total and complete mess right now, until further testing would be done to rule it out...which would take weeks that equals weeks of unnecessary panic.  Not to mention the cost of additional testing (amnio) which would cost as much at he blood test.  In the end, it would seem that I would be paying that money regardless.

Sooooo....2-3 minutes of panic vs. 2-3 weeks of panic?  Yah, that test was with every single penny!

Everything else looked great, right on target in size and she's still a girl!  

Here is a cute little picture of her feet and her smiling face!!

NeonNoon

Glad it all worked out!  Cool pics

anonymousmotley

Meeee too!!  Thanks!

mandyreads

Well worth it then

mdogan29

She's smiling!

marijaa333

This stuff can be so confusing! I have heard of extremely rare cases of false negatives*** and am agonizing over whether to go straight to the diagnostic CVS for this reason (also the fact NIPT is so new and never required FDA approval because it's simply a blood test). I don't want to scare you further but you may want to chat with a genetic counselor again, just to see of s/he recommends an additional test (and only of you want to, of course - I can totally understand if you are happy with the info you have, which sounds overwhelmingly reassuring).

And I love the cutie smile. :-)

*** see
https://www.dcurbanmom.com/jforum/posts/list/290080.page

Samuelismomma

@marijaa333‌ It only stands to reason if there is false negative blood DNA, then there would be on amnio and cvs. That's why they are all 99% accurate . Doesn't matter if its tissue, blood, fluid...etc. the extracted DNA is tested the same. Eventually these tests will replace more invasive. I wouldn't agree cvs only has 1% chance miscarriage. I was an OB nurse. I would only do amnio if I had too. I would talk to dr . @Anomousmotley So glad everything is great and you got instant relief! That is awesome and so is pics!

BeckyP005

Happy to hear everything is ok!!

indianaalum

Glad to hear you could have some relieve. False negative are EXTREMELY rare, so don't even let that get in your mind. your baby is fine! Good Luck

JilliansMoma

Glad you paid for your peace of mind! Like you said worth every penny!! What a cutie pie!! Congratulations again!

tahitiandreamin

Thanks for sharing your story.  I've had a hard time deciding whether to do NIPT testing or not because of the cost.  I've also read a few too many stories about false positives/negatives.  I know that the internet is a haven for all of the worst case scenario stories so I'm trying to keep that in mind.  Hearing how the NIPT testing has helped somebody STOP worrying is exactly the kind of thing that I need to hear.

I'm glad that it's all worked out for you!

ryemo

Technically the NIPT is considered screening, not diagnostic. However, 99% is pretty dang accurate. I feel like it's only a matter of time before it's considered diagnostic. I'd rest totally at ease if I were you.

anonymousmotley

Thanks ladies!! 

I am totally at ease and have no doubt the baby is fine.  This is why I shared the story.  Had I not had the NIPT done, I would have gone to something more invasive which I was really opposed to because of my loss history.  Deciding on risking m/c (no matter how small) would be a heavy burden to bear and I wasn't willing to do it.

As far as the cost goes, just a little FYI.  The retail rate is $2762.  The contracted rate with BCBS was $823.50, which is my responsibility because I haven't met my deductible yet. Along with the bill was a letter to call them to inquire about their "Patient Assistance Program" (also some mommies had previously suggested in posts to try calling Sequenom because they could reduce the cost to $250).  I called them, but that $250 must only apply if it's not covered or they're not in network with your insurance.  They told me "Since we are contracted with BCBS for $823.50, we can't reduce this price any further.  What we can offer is a 6 month to 2 year payback plan."  So, if I wanted to, I can take 2 years to pay them back at $34.31/mo...interest free.  Hope that helps someone.

fletchtony12

I called the company and they reduced it to $250...interesting that because they are contracted, they wouldn't reduce it.  It really is WONDERFUL having the piece of mind though...Priceless!!!

MrsDL

Samuelismomma said:

@marijaa333‌ It only stands to reason if there is false negative blood DNA, then there would be on amnio and cvs. That's why they are all 99% accurate . Doesn't matter if its tissue, blood, fluid...etc. the extracted DNA is tested the same. Eventually these tests will replace more invasive. I wouldn't agree cvs only has 1% chance miscarriage. I was an OB nurse. I would only do amnio if I had too. I would talk to dr . @Anomousmotley So glad everything is great and you got instant relief! That is awesome and so is pics!

M21 and the others are not 99% accurate for everything - the highest accuracy rate is for T21, it's a bit lower for T13, T18 and some of the sex-related disorders (published on website).  That said, the accuracy is higher than the NT for being a non-invasive test.  Cell-free fetal DNA extracted from mom's blood is NOT the same as the direct DNA extracted during CVS and Amnio - so no, they are not the same which is why this has not replaced CVS or amnio just yet (plus accuracy published is for a much smaller group - those with risks or over 35, not the entire population.  This impacts accuracy results across the board).

To the poster thinking about skipping right to CVS because of a small false-neg/pos rate - does your doctor recommend both the M21 and the NT?  I had the M21 first, then an NT (because the NT testing also looks at a few things the cell-free fetal DNA tests do not in terms of potential complications that are not genetic disorders).  The chances of both M21 AND NT being "negative" and then getting some sort of fluke false negative on M21 is much more rare and the risk of loss is pretty much higher with CVS at that point.  If you don't have any reason other than age to proceed to the "definitive" tests, they are usually not recommended unless something shows up on previous tests or ultrasound.

OP - glad to hear everything is fine.  My friend also had CPC show up with her daughter (these tests were not quite available) and it was terrifying for her.  They eventually disappeared but because she didn't want any invasive tests, it was a weeks-long waiting game and ruined her pregnancy.  It's so nice that you know and have nothing to worry about. 

marijaa333

PP, thanks; what attracts me to CVS is that it tests for a huge range of conditions; while my risk of having a particular disease is small, the risk of having one of the possible conditions is higher than the risk of the CVS procedure as far as I can tell; if I only did Mat21, I would spend the next nine months worries. Obviously the same decision is not the right decision for everyone. I'm aware of the risks associated with the procedure and am not taking it lightly.

Sorry for the thread hijack, OP!

anonymousmotley

MrsDL said:

OP - glad to hear everything is fine.  My friend also had CPC show up with her daughter (these tests were not quite available) and it was terrifying for her.  They eventually disappeared but because she didn't want any invasive tests, it was a weeks-long waiting game and ruined her pregnancy.  It's so nice that you know and have nothing to worry about.

Awww...that is terrible! Poor thing!!
I would have been in her shoes, had I not done the Mat21. Thanks for sharing her story.

marijaa333 said:

Sorry for the thread hijack, OP!

Haha...No worries at all!

Lm92599

@anonymousmotley My daughter who is now 5 years old had CPC on one of her scans, They kept watching them, and like you I was freaking out and googling all kinds of crazy things. STAY AWAY FROM GOOGLE, Anyways on one of my last scans before she came, they were gone! Prayers and positive thoughts for you as well. I would say more times than not there is no reason for them. (hugs)

Bigboneded

@anonymousmotley‌ I had the NIPT done and came back no trisomy, no y chromosomes. Then the lab ran a test for neural tube defects as a quad screen? And determined I had a 1:10 chance for Down's. I'm with you the NIPT gave me peace of mind in spite of new developments. And I wouldnt do CVS or amnio (×2 for di/di twins) because of increased risk for miscarraige is too much risk after a loss....
happy for your peace of mind :-)

anonymousmotley

Lm92599 said:

@anonymousmotley My daughter who is now 5 years old had CPC on one of her scans, They kept watching them, and like you I was freaking out and googling all kinds of crazy things. STAY AWAY FROM GOOGLE, Anyways on one of my last scans before she came, they were gone! Prayers and positive thoughts for you as well. I would say more times than not there is no reason for them. (hugs)

Thank you for this! It gives me hope that Elsa's will be gone by my 36 week ultrasound!! I already hit Google up but I only read clinical info about it...thank goodness!

anonymousmotley

Bigboneded said:

@anonymousmotley‌ I had the NIPT done and came back no trisomy, no y chromosomes. Then the lab ran a test for neural tube defects as a quad screen? And determined I had a 1:10 chance for Down's. I'm with you the NIPT gave me peace of mind in spite of new developments. And I wouldnt do CVS or amnio (×2 for di/di twins) because of increased risk for miscarraige is too much risk after a loss....
happy for your peace of mind :-)

Aww...I'm glad you're in the same boat as me as far as the testing giving you peace of mind. I'm telling you, these tests are so amazing!!

I'm with you on the invasive tests! Before these nipts, that was the only way to know. So I am VERY grateful for this new technology!!

lgsdesigner

Sorry you had a scare, but glad everything is fine. She is adorable!!

anonymousmotley

Thanks!