second sample

second sample

BroodyHen
BroodyHen

August 2nd, 2012, 4:45 am #1

verify couldn't test the second sample either, citing the same problem as the first try (too much maternal DNA in the sample, or something like that). so twice a bust with verify, but got the negative from materniT21. my GC remains very suspicious of the materniT21 result since verify can't even test my samples. i still don't know how different the labs and their technologies are, if at all. at this point it is almost irrelevant. without an amnio we just don't have certainty. but heck, is there any certainty in life?!

oh, well. feeling pretty good anyway
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Raindrops1
Raindrops1

August 2nd, 2012, 5:23 am #2

When I had my nuchal screening done I was told those measurements are very important. I was told not to worry about the bloodwork because my measurements were nice and thin. They also look at other things in the ultrasound. My bloodwork came back just fine as they predicted it would.

It is just a screening test but I wish they could have told you a bit more to put your mind at rest. Feel good about the measurements.
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Teresa
Teresa

August 2nd, 2012, 11:08 am #3

Just because the measurement is "good" doesn't mean no DS. The measurements are important yes, but the reason the nuchal scan is done IN CONJUNCTION with blood, is to get a more accurate picture for DS and trisomies 13 and 18. Not to scare you or anyone but I just went through this and had been so excited for a good measurement, but then my blood came back high risk. A DS baby CAN have a "good" nuchal measurement.

Do many women of AMA receive false positives for their nuchal scan? Yes. It's NOT a dignostic test, it just exists to tell you odds and so that if your odds are HIGH you can make a choice as to how you would like to proceed with additional testing (or not)

I just want people to be informed of this in case they think "oh my measurement was good, I don't have to worry" You need to get the measurement AND blood, see what the two combined tell you and then decide if you want either to leave it all alone and not do anything, or go on to have a CVS, Amnio or MaterniT21.

I know I have gone on and on about this...I will shut up from now on
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Teresa
Teresa

August 2nd, 2012, 11:12 am #4

verify couldn't test the second sample either, citing the same problem as the first try (too much maternal DNA in the sample, or something like that). so twice a bust with verify, but got the negative from materniT21. my GC remains very suspicious of the materniT21 result since verify can't even test my samples. i still don't know how different the labs and their technologies are, if at all. at this point it is almost irrelevant. without an amnio we just don't have certainty. but heck, is there any certainty in life?!

oh, well. feeling pretty good anyway
Why the MatereniT21 would come back negative...wouldn't it come back inconclusive? Or even positive, because our GC told me IF the MaterniT21 test comes back positive, she would have advised to go ahead with an amnio (I still would NOT have)

Broody, have you called Sequenom and told them of this? Maybe they can give you more of an explanation/insight and put your mind at ease?

I am SO sorry this is causing you so much stress, I really feel bad. When is your next scan?

Again, I would take solace in that it came back negative AND they havent seen any soft markers. Keep your eye on those odds in your favor, which are very, very high.

If you need the # to Sequenom, please let me know, I have it.

Thinking of you~

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Laura
Laura

August 2nd, 2012, 2:30 pm #5

Just because the measurement is "good" doesn't mean no DS. The measurements are important yes, but the reason the nuchal scan is done IN CONJUNCTION with blood, is to get a more accurate picture for DS and trisomies 13 and 18. Not to scare you or anyone but I just went through this and had been so excited for a good measurement, but then my blood came back high risk. A DS baby CAN have a "good" nuchal measurement.

Do many women of AMA receive false positives for their nuchal scan? Yes. It's NOT a dignostic test, it just exists to tell you odds and so that if your odds are HIGH you can make a choice as to how you would like to proceed with additional testing (or not)

I just want people to be informed of this in case they think "oh my measurement was good, I don't have to worry" You need to get the measurement AND blood, see what the two combined tell you and then decide if you want either to leave it all alone and not do anything, or go on to have a CVS, Amnio or MaterniT21.

I know I have gone on and on about this...I will shut up from now on
The NT measurement is not useless without the b/w, but it just can't give you numerical odds. It DOES mean that your risk is lower than others your age, but just not how much lower. Your NT measurement was good and your b/w revised your risk to be lower than others your age. Not as low as you hoped but still lower (and the test isn't as conclusive for women your age either). Having a good, NT measurement, 4 limbs and a nasal bone are all good signs even w/o b/w. no, it doesn't mean no DS, but neither does a negative mat21. It's only 99% accurate.
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Teresa
Teresa

August 2nd, 2012, 3:36 pm #6

Having 4 limbs is good but has nothing to do with whether or not a baby has DS. And also while it is good to see a nasal bone, some babies with DS do have a nasal bone. A good nuchal measurement is not a bad thing but just not enough to conclude no down. Of course you are right about the maternit21 test, as someone who had it I realize just because I got a negative doesn't mean my baby won't have down. My point was that you need the blood with that measurement to better decide if you want to proceed with further testing. You just can't say I had a good measurement I'm in the clear. That's all I am saying.
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Joined: August 6th, 2011, 6:43 am

August 2nd, 2012, 3:39 pm #7

Just because the measurement is "good" doesn't mean no DS. The measurements are important yes, but the reason the nuchal scan is done IN CONJUNCTION with blood, is to get a more accurate picture for DS and trisomies 13 and 18. Not to scare you or anyone but I just went through this and had been so excited for a good measurement, but then my blood came back high risk. A DS baby CAN have a "good" nuchal measurement.

Do many women of AMA receive false positives for their nuchal scan? Yes. It's NOT a dignostic test, it just exists to tell you odds and so that if your odds are HIGH you can make a choice as to how you would like to proceed with additional testing (or not)

I just want people to be informed of this in case they think "oh my measurement was good, I don't have to worry" You need to get the measurement AND blood, see what the two combined tell you and then decide if you want either to leave it all alone and not do anything, or go on to have a CVS, Amnio or MaterniT21.

I know I have gone on and on about this...I will shut up from now on
But a good measurement is an indicator that things are ok. I was actually given the option as to whether I wanted to proceed with blood work and I chose the blood work to complete the screening process.

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Erin
Erin

August 2nd, 2012, 3:44 pm #8

verify couldn't test the second sample either, citing the same problem as the first try (too much maternal DNA in the sample, or something like that). so twice a bust with verify, but got the negative from materniT21. my GC remains very suspicious of the materniT21 result since verify can't even test my samples. i still don't know how different the labs and their technologies are, if at all. at this point it is almost irrelevant. without an amnio we just don't have certainty. but heck, is there any certainty in life?!

oh, well. feeling pretty good anyway
Hi Broodyhen- It's frustrating that the second sample came back the same as the first, but I'm really glad you're feeling good anyways b/c I do think there are good reasons to be optimistic! I second Teresa's suggestion to call Sequenom- I called them once and also found them helpful. There may be a very good reason why their test would have a result where verify did not (the technology/machines used in the process may very well be different, etc.).

As for the sequential screen (NT scan/labs) I keep bringing her up, but my midwife friend (who is very evidence-based and up on research) really does not like that test. She encouraged me to skip it and I wish I would have taken her advice ultimately. She feels that it's not really very accurate and has a lot of false positives (for all ages of women)- although she's quick to point out that there are no "positives" or "negatives" with that test- as an odds ratio, the result is not all that telling or accurate. She said she's seen women with very high odds for DS (like 1:3) end up w/ a completely healthy baby, and a woman with 1:1000 odds of DS have a baby with DS. She feels that the test tends to cause a lot of unnecessary worry (or in the latter case, inappropriate relief) and I'm tending to agree.

So, all that to say I think you have every reason to feel optimistic with the negative MaterniT21 test! You are absolutely right on there being no certainty in life- hard to accept (especially after dealing with years of IF) but very true. Sending good thoughts!

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Laura
Laura

August 2nd, 2012, 3:59 pm #9

Having 4 limbs is good but has nothing to do with whether or not a baby has DS. And also while it is good to see a nasal bone, some babies with DS do have a nasal bone. A good nuchal measurement is not a bad thing but just not enough to conclude no down. Of course you are right about the maternit21 test, as someone who had it I realize just because I got a negative doesn't mean my baby won't have down. My point was that you need the blood with that measurement to better decide if you want to proceed with further testing. You just can't say I had a good measurement I'm in the clear. That's all I am saying.
I said your risk was decreased for your age group. You said the NT scan was useless without b/w. it isn't.

4 limbs is not related to DS. It is related to the other rare trisomies, where the babies develop much less normally than a DS baby. A nasal bone can be much less pronounced at 13 wk for a DS baby.

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Laura
Laura

August 2nd, 2012, 4:26 pm #10

Hi Broodyhen- It's frustrating that the second sample came back the same as the first, but I'm really glad you're feeling good anyways b/c I do think there are good reasons to be optimistic! I second Teresa's suggestion to call Sequenom- I called them once and also found them helpful. There may be a very good reason why their test would have a result where verify did not (the technology/machines used in the process may very well be different, etc.).

As for the sequential screen (NT scan/labs) I keep bringing her up, but my midwife friend (who is very evidence-based and up on research) really does not like that test. She encouraged me to skip it and I wish I would have taken her advice ultimately. She feels that it's not really very accurate and has a lot of false positives (for all ages of women)- although she's quick to point out that there are no "positives" or "negatives" with that test- as an odds ratio, the result is not all that telling or accurate. She said she's seen women with very high odds for DS (like 1:3) end up w/ a completely healthy baby, and a woman with 1:1000 odds of DS have a baby with DS. She feels that the test tends to cause a lot of unnecessary worry (or in the latter case, inappropriate relief) and I'm tending to agree.

So, all that to say I think you have every reason to feel optimistic with the negative MaterniT21 test! You are absolutely right on there being no certainty in life- hard to accept (especially after dealing with years of IF) but very true. Sending good thoughts!
I debated skipping it, but did it for the free u/s.

Someone here did have odds of 1/3...I remember seeing that, but normal baby.
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