MaterniT21 a bust

MaterniT21 a bust

BroodyHen
BroodyHen

July 24th, 2012, 7:02 pm #1

hi everyone.
just posting my update here. i heard back from the genetic counselor that they can't test my blood sample because there is too much maternal DNA in it. they can't separate the fetal DNA so they can't do the test. apparently this is very rare, and doesn't mean anything other than i can't get do the test. i'm incredibly disappointed! i was already wondering if i could live with just the information that the blood test would provide (only testing for the 3 trisomies, not checking all the chromosomes like a CVS or amnio would). now i won't even be able to get that information. i know it is lucky to have this new test in play, just too bad i can't use it

they moved my nuchal U/S up to friday (it was scheduled for next week) so i'll have more time to process and decide if i want to do a CVS next week (i'll be 12 wks next week). i don't see changing my mind about the CVS, i just can't risk the pregnancy, and CVS seems to be a much higher risk for immune patients than amnio. i guess we'll wait and see how it goes friday and then contemplate an amnio.

thanks for listening.
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Teresa
Teresa

July 24th, 2012, 7:47 pm #2

I've been waiting for your update!

Oh my gosh. I feel so bad about this because I KNOW ALL too well what that wait is like and to hear this when you have been nervously waiting for results, oh god! How frustrating!

I was peeking in on another board for women who had taken this test while I waited for my results and came across one woman who this happened to as well, same exact thing as you.


http://community.babycenter.com/post/a3 ... _xtra_wait

They tested her again. Unfortunately she had to wait the 2 weeks again. I know how grueling that wait is, and I completely understand not wanting to do a CVS or an Amnio. I just couldn't risk it myself.

I think your decision to wait it out and see how your scan goes is the absolute RIGHT thing. Did your GC mention taking another sample at all? Is this something you would consider?

I wish I had more consoling words for you. As you are waiting for your scan and deciding what you'd like to do, try to keep focusing on the 96% that ALL is FINE. I know that's very hard to do, but the odds are very much in your favor. I had to tell myself this many, many times every day I was waiting. I am thinking of you and sending you a BIG hug from across the cyberwaves!







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Teresa
Teresa

July 24th, 2012, 7:47 pm #3

hi everyone.
just posting my update here. i heard back from the genetic counselor that they can't test my blood sample because there is too much maternal DNA in it. they can't separate the fetal DNA so they can't do the test. apparently this is very rare, and doesn't mean anything other than i can't get do the test. i'm incredibly disappointed! i was already wondering if i could live with just the information that the blood test would provide (only testing for the 3 trisomies, not checking all the chromosomes like a CVS or amnio would). now i won't even be able to get that information. i know it is lucky to have this new test in play, just too bad i can't use it

they moved my nuchal U/S up to friday (it was scheduled for next week) so i'll have more time to process and decide if i want to do a CVS next week (i'll be 12 wks next week). i don't see changing my mind about the CVS, i just can't risk the pregnancy, and CVS seems to be a much higher risk for immune patients than amnio. i guess we'll wait and see how it goes friday and then contemplate an amnio.

thanks for listening.
I've been waiting for your update!

Oh my gosh. I feel so bad about this because I KNOW ALL too well what that wait is like and to hear this when you have been nervously waiting for results, oh god! How frustrating!

I was peeking in on another board for women who had taken this test while I waited for my results and came across one woman who this happened to as well, same exact thing as you.


http://community.babycenter.com/post/a3 ... _xtra_wait

They tested her again. Unfortunately she had to wait the 2 weeks again. I know how grueling that wait is, and I completely understand not wanting to do a CVS or an Amnio. I just couldn't risk it myself.

I think your decision to wait it out and see how your scan goes is the absolute RIGHT thing. Did your GC mention taking another sample at all? Is this something you would consider?

I wish I had more consoling words for you. As you are waiting for your scan and deciding what you'd like to do, try to keep focusing on the 96% that ALL is FINE. I know that's very hard to do, but the odds are very much in your favor. I had to tell myself this many, many times every day I was waiting. I am thinking of you and sending you a BIG hug from across the cyberwaves!







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Teresa
Teresa

July 24th, 2012, 7:48 pm #4

hi everyone.
just posting my update here. i heard back from the genetic counselor that they can't test my blood sample because there is too much maternal DNA in it. they can't separate the fetal DNA so they can't do the test. apparently this is very rare, and doesn't mean anything other than i can't get do the test. i'm incredibly disappointed! i was already wondering if i could live with just the information that the blood test would provide (only testing for the 3 trisomies, not checking all the chromosomes like a CVS or amnio would). now i won't even be able to get that information. i know it is lucky to have this new test in play, just too bad i can't use it

they moved my nuchal U/S up to friday (it was scheduled for next week) so i'll have more time to process and decide if i want to do a CVS next week (i'll be 12 wks next week). i don't see changing my mind about the CVS, i just can't risk the pregnancy, and CVS seems to be a much higher risk for immune patients than amnio. i guess we'll wait and see how it goes friday and then contemplate an amnio.

thanks for listening.
Sorry for the double post, not sure why that happened! n/t
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Erin
Erin

July 24th, 2012, 8:01 pm #5

hi everyone.
just posting my update here. i heard back from the genetic counselor that they can't test my blood sample because there is too much maternal DNA in it. they can't separate the fetal DNA so they can't do the test. apparently this is very rare, and doesn't mean anything other than i can't get do the test. i'm incredibly disappointed! i was already wondering if i could live with just the information that the blood test would provide (only testing for the 3 trisomies, not checking all the chromosomes like a CVS or amnio would). now i won't even be able to get that information. i know it is lucky to have this new test in play, just too bad i can't use it

they moved my nuchal U/S up to friday (it was scheduled for next week) so i'll have more time to process and decide if i want to do a CVS next week (i'll be 12 wks next week). i don't see changing my mind about the CVS, i just can't risk the pregnancy, and CVS seems to be a much higher risk for immune patients than amnio. i guess we'll wait and see how it goes friday and then contemplate an amnio.

thanks for listening.
Broodyhen- I'm so sorry. That must be incredibly frustrating, especially after waiting for the results for the past week or two. Is there any chance there would be more fetal dna and less maternal if they took another blood sample? I think there's a good argument for the company to run it for free if that's the case. I don't have any good advice, but just empathizing with how difficult that must be. As Teresa said, a 96% chance of a good outcome is pretty great. Thinking of you and sending good thoughts...
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jkl
jkl

July 24th, 2012, 9:20 pm #6

hi everyone.
just posting my update here. i heard back from the genetic counselor that they can't test my blood sample because there is too much maternal DNA in it. they can't separate the fetal DNA so they can't do the test. apparently this is very rare, and doesn't mean anything other than i can't get do the test. i'm incredibly disappointed! i was already wondering if i could live with just the information that the blood test would provide (only testing for the 3 trisomies, not checking all the chromosomes like a CVS or amnio would). now i won't even be able to get that information. i know it is lucky to have this new test in play, just too bad i can't use it

they moved my nuchal U/S up to friday (it was scheduled for next week) so i'll have more time to process and decide if i want to do a CVS next week (i'll be 12 wks next week). i don't see changing my mind about the CVS, i just can't risk the pregnancy, and CVS seems to be a much higher risk for immune patients than amnio. i guess we'll wait and see how it goes friday and then contemplate an amnio.

thanks for listening.
did they stil charge you for the test? I would discuss whether you coud do it again. Could you just get your odds from the nt and go from there? If you have very good odds it may not be worth doing more testing, just depends what your level of comfort is. You should discuss with your genetic counselor how important it is to test all the chromosomes. The 3 tested are the most common (and some of those aren't even very common), so the others would be very rare indeed. The ones incompatible with life may be picked up on the u/s. The amnio also tells you something about spina bifida, another common (non-genetic though) malformation, I don't think cvs does. So all the tests have their pros and cons. Good luck with the nuchal. jkl
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mel
mel

July 24th, 2012, 11:55 pm #7

hi everyone.
just posting my update here. i heard back from the genetic counselor that they can't test my blood sample because there is too much maternal DNA in it. they can't separate the fetal DNA so they can't do the test. apparently this is very rare, and doesn't mean anything other than i can't get do the test. i'm incredibly disappointed! i was already wondering if i could live with just the information that the blood test would provide (only testing for the 3 trisomies, not checking all the chromosomes like a CVS or amnio would). now i won't even be able to get that information. i know it is lucky to have this new test in play, just too bad i can't use it

they moved my nuchal U/S up to friday (it was scheduled for next week) so i'll have more time to process and decide if i want to do a CVS next week (i'll be 12 wks next week). i don't see changing my mind about the CVS, i just can't risk the pregnancy, and CVS seems to be a much higher risk for immune patients than amnio. i guess we'll wait and see how it goes friday and then contemplate an amnio.

thanks for listening.
So sorry! How frustrating!

Thankfully you are able to get in this week for your NT scan. Hopefully that will give you some solace and also give you information you may need in moving forward with your decision to go for further testing or not.

These decisions are not easy to make and the waiting for testing (and then results) becomes frustrating and anxiety ridden. Here's hoping the NT scan on Friday goes well and is able to help you in your decision making process.

Sending lots of good thoughts your way!
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Sara H
Sara H

July 25th, 2012, 1:09 pm #8

hi everyone.
just posting my update here. i heard back from the genetic counselor that they can't test my blood sample because there is too much maternal DNA in it. they can't separate the fetal DNA so they can't do the test. apparently this is very rare, and doesn't mean anything other than i can't get do the test. i'm incredibly disappointed! i was already wondering if i could live with just the information that the blood test would provide (only testing for the 3 trisomies, not checking all the chromosomes like a CVS or amnio would). now i won't even be able to get that information. i know it is lucky to have this new test in play, just too bad i can't use it

they moved my nuchal U/S up to friday (it was scheduled for next week) so i'll have more time to process and decide if i want to do a CVS next week (i'll be 12 wks next week). i don't see changing my mind about the CVS, i just can't risk the pregnancy, and CVS seems to be a much higher risk for immune patients than amnio. i guess we'll wait and see how it goes friday and then contemplate an amnio.

thanks for listening.
I am so sorry!

Can they test again and put a "rush" on it? (I am not totally clear on the science of this one so I don't know if that is even possible.)

Good luck and I am so sorry!
Sara H
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BroodyHen
BroodyHen

July 26th, 2012, 5:56 am #9

hi everyone.
just posting my update here. i heard back from the genetic counselor that they can't test my blood sample because there is too much maternal DNA in it. they can't separate the fetal DNA so they can't do the test. apparently this is very rare, and doesn't mean anything other than i can't get do the test. i'm incredibly disappointed! i was already wondering if i could live with just the information that the blood test would provide (only testing for the 3 trisomies, not checking all the chromosomes like a CVS or amnio would). now i won't even be able to get that information. i know it is lucky to have this new test in play, just too bad i can't use it

they moved my nuchal U/S up to friday (it was scheduled for next week) so i'll have more time to process and decide if i want to do a CVS next week (i'll be 12 wks next week). i don't see changing my mind about the CVS, i just can't risk the pregnancy, and CVS seems to be a much higher risk for immune patients than amnio. i guess we'll wait and see how it goes friday and then contemplate an amnio.

thanks for listening.
all of your thoughtful, supportive replies. so, the full story is -- i insisted (even though the GC and perinatal office thought it was INSANE) on having two tests. there are actually two companies (more, actually) that do the blood test, and my thinking was that if the labs were different or they used slightly different techniques it could be meaningful to run the test twice, especially for trisomy 13 and 18 which have a much lower accuracy rate. they agreed, and the first result is actually from Verify (the brand name of the test. my perinatal office switched from materniT21 to verify because they were first to add trisomy 13 and 18 testing). i am still waiting for the MaterniT21 results, though the GC is pretty certain it will be the same result - unable to test the sample. interesting that i haven't heard yet, maybe they can read the sample?! and very interesting link you posted, teresa, thanks so much!, it does look like materniT21 has a fair number of false positives, and that maybe when samples are inconclusive they simply call it a positive? hard to figure all that out from the baby center posts, but it is concerning. i'm so glad i read about that before getting the materniT21 result in case it is positive, so i know to follow up on how exactly they made the diagnosis.

my GC and the GCs at verify don't think there is going to be any change in a new sample taken at a different time, they are not recommending retesting, but are willing to try if i want to. they haven't yet told me whether i am being charged for the test with no result or if they'll rerun the test at no additional charge. i am inclined to try again just in case there is a change, but i also worry about accuracy of the results if my blood is wonky (it is wonky, presumably due to the clotting disorder). they suspect it might be the clotting disorder/autoimmune disease and/or lovenox skewing things, but they really don't know. blah, blah, blah.

so, i'm going in for the nuchal on friday. i will get new odds and more info and will see where we are. hopefully it will become clear what, if anything, to do next....

thanks so much again for the support.
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Teresa
Teresa

July 26th, 2012, 10:48 am #10

Broody I read your post several times, I'm confused. The MaterniT21 test also tests for the Trisomys. The MaterniT21 test has a 99.1% detection rate for DS, a 99.9% detection rate for Trisomy 18 and 91.7% detection rate for Trisomy 13. I'm not sure about Verify. So, the test you took then was Verify, not MaterniT21?

I hope you don't have to be charged twice for that test! And I hope you get more answers from your Nuchal. I really think the Nuchal is a great indicator, especially for us who are AMA, more so than the blood tests.

Keep us posted.
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