high risk from verifi, but low risk from NT scan

lbeckner83 · November 2014

Hi!

I had the NT scan at 12 weeks. The NT measured 1.26 mm, so super low and they did see a nasal bone.Then we did the verifi test and it came back "high." We were told that we should believe there is a problem since this test claims 99% accuracy. However, We did have a second gestational sac very early in pregnancy, but never saw a 2nd heartbeat. Did anyone have any results like this where the NT ultrasound looked great, but the blood work came back high risk? Could this be a false positive due to the 2nd sac? HELP please

kmc84 · November 2014

Did you get the 12 & 16 week sequential screen along with the u/s? What were the results from the bloodwork?

I'm not sure about the second sac impacting results. With A, she started as a twin, but the second sac disappeard very early on....

Did your OB have any input?

kmc84 · November 2014

Was the verify test the coordinating bloodwork?

Mine was ordered as a sequential screen, so I may be referencing the same thing.....

lbeckner83 · November 2014

I'm 16 weeks now, I haven't done the sequential screen yet. I just got the 12 week screening and they didn't do the typical blood draw, they only did the verifi test (I have no clue why). Did you have any contradicting results like this?

Pintobean39 · November 2014

I'm not real sure about the second sac but that could be a possibility. My Dr explained to me the blood test work because the baby is shedding very small amounts DNA in your blood stream and the test is basically filtering it out and amplifying it so the can get a reading. If the second sac was genetically abnormal it's possible it could have been reabsorbed in your blood stream. I'm by no means a Dr and I'm just guessing.

From my understanding the Verifi test is more accurate and I'd trust those results over a NT. Did they tell you why it was abnormal? I thought it's looking at trisomy 13, 18, and 21 and the sex chromosomes.

I'm sorry I don't really have any answers but I really hope every thing works out for the best for you.

kmc84 · November 2014

Hummmm. I'm not sure then. I had labs at 12 and 16 weeks and both were labeled 'sequential screen'.

The NT scan (as far as I have ever seen or been told) is only useful with the lab work. The measurement they take really doesn't mean anything on its own.

I'd definitely talk to your OB and see what their thoughts are. I think I would want to see if you had any risk factors and then decide if you want to do further testing.

I'm really sorry you got such conflicting information

kmc84 · November 2014

My labs with A's pregnancy were normal.

pblge · November 2014

I'm sorry you're dealing with this. ((hugs)) It definitely seems like this is the sort of thing you have to discuss with your doctor. Very confusing and complicated to sort out! I hope that the scan results are right!

lbeckner83 · November 2014

Thank you! We are just praying the blood work is a false positive.

The dr recommended a follow up ultrasound to reassess risk. From there we will decide if we want to do an amnio.

The dr said there are false positives and the 2nd sac definitely could effect the results so now we just have to wait another week for the follow up ultrasound. It's driving me crazy!

FishyMom · November 2014

I am so sorry you are having to deal with this. I hope that the Verifi results were misconstrued due to the second sac they saw early on. Is it possible to request the test again? I would have thought they would have told you what specifically was considered high risk with the Verfi test results. I would call and get some more answers. T&p's headed your way.

lbeckner83 · November 2014

Thank you!

They just told us "high risk" for Downs syndrome. They didn't give us much more information. You would think with a test that was supposed to be so good, they would give you more information! But no. Hopefully the ultrasound next week looks clear!

kmc84 · November 2014

Keep us posted! I'm glad the doc thinks the second sac may be to blame!

hopeby2015 · November 2014

Sorry to hear you are going through this! We also had a vanishing twin that didn't shrink for a very long time! We ended up having to do the Maternit21 test 3 times in order to finally get a result! The first 2 times, the test came back inconclusive (or at least this is what we were told). We weren't able to get good results until about 16/17 weeks. (Test came back normal and NT scan was normal too, if this helps). I don't know much about the verfi one, maybe you could ask to take a different test? Wait till the sac disappears? I know that a 2nd sac that didn't work out, will affect the results, since most likely, the reason baby #2 didn't stick around was because there was something abnormal about it. (Not to be insensitive). I hope your doc will be able to provide better insight and you get this all resolved! Good luck!

lbeckner83 · November 2014

Thank you! That's very helpful! I'm hoping we are in the same situation and the vanishing twin had abnormal DNA which is throwing off the test! The Verifi and the Maternit21 are very similar from what my OB said. I'm 16 weeks now, so maybe i'll ask to do a different test! Thanks again!

gsancho · November 2014

Sorry - that is frustrating. I don't have too much input...However, when I was reading up on the accuracy of the sex on the MaterniT21 test, I did read that a portion of the inaccurate sex results happened for those who had a vanishing twin or a recent miscarriage. So while the test will still be fairly accurate, it seems like there may be a slightly larger margin of error for your situation.

lbeckner83 · November 2014

Thank you!

Ecarabeo217 · November 2014

Sorry you're going through this...I also had a vanishing twin. Not all the labs for fetal DNA (verifi, maternit21, natera) will work with vanishing twins for this reason. My MFM made me wait 4 weeks from the diagnosis of vanishing twin to run blood since it could otherwise interfere. Hopefully that's what's happening in your case! Good luck and keep us posted!

Harmony was the only one that was willing to do the labs with a vanishing twin, FWIW

Pintobean39 · November 2014

I thought the whole point in these blood test was to say yes or no to whether or not their are extra chromosomes or missing chromosomes not a %. I have copies of the chromosome analysis of the babies I lost and all the embryos from IVF and it's an actual picture of each chromosome so you can see what's going on.

Is this just the Verifi? I'm not sure what brand I'm doing yet because I haven't taken it yet. I also won't be requesting copies of the report because were team green to be able to tell. That's just what my Dr explained, that we will get the actual chromosome analysis, unless I misunderstood.

mrs.willie · November 2014

@Pintobean39. I thought I had the MaterniT21, but I just looked and it was the Harmony. My OB told me that we had to specifically request the XY analysis to find out the sex, otherwise, they just test the cell free DNA for Trisomies 13, 18 and 21. It then gives a risk level and the probability of that trisomy in a %. If you elect to find out the sex, then it'll also test for sex chromosome conditions are reported if there's a 1% or greater chance of an issue. I'm not sure if it's like that for all the tests, but if you don't elect to find out the sex, then it's not in the results.

pblge · November 2014

In considering these test results, I found the table on this link really helpful:
https://www.panoramatest.com/en/healthcare-provider/clinical-data
It's ad material for Panorama, so I would take those results with a grain of salt, but it was interesting to look at the sensitivity and false positive results of all the possible tests.

The sensitivity means that rate at which the test detected the problem when it existed. So, for example, the Verifi test only identified 87.5% of the cases of Trisomy 13--remember that there were probably only a handful of those cases in the test sample, so that statistic may not be completely accurate. It might mean it only missed one or two cases, I haven't read through the whole page carefully enough to be sure (I think they might only be describing the generation of the Panaroma results, but I'm not sure).

False positives are what they sound like--the percentage of cases in which the test showed a problem that turned out not to be there. Some of these are surprisingly high, particularly for Monosomy X.

Of course, we have no idea if the samples included the population of women who had vanishing twins. They SHOULD, as that would be representative of the women getting these tests in clinical situations, but that's the sort of thing clinical trials might try to control for.

Ecarabeo217 · November 2014

My MFM told me that specifically some of these labs refuse to test when a vanishing twin situation exists. I suppose their testing studies never included them, so they can't offer good statistics with this regard. I had to go harmony even though it wasn't who my insurance preferred. And even then we waited for 4 weeks per the lab's instructions. None of these tests (or the integrated) give anything other than a risk assessment. Simply that the sensitivity of this is better than the sensitivity of the integrated screen. But this was only studied in a "high-risk" population. So, women over 35 and women with a history of a genetically abnormal pregnancy. The statistics for a low-risk patient are potentially different. With an abnormal, amnio is the only "real" way to determine if there's an issue with the baby. Wish it weren't so

AMShark · November 2014

I don't know if this adds insight, but I'm having twins and I did the Maternit21. The nurse at my MFM's office advised that while they can tell the baby's sex with this test for singletons, they cannot test for sex with multiples. It's all the same story of determining who is supplying the DNA that's being tested.

I imagine this could effect any portion of the test, even in the case of a vanishing twin.

I'll be thinking of you while you wait for new tests. ((hugs))

lbeckner83 · November 2014

Thank you!

That's what i'm hoping!! We should know a week from tomorrow!

MJ14323 · November 2014

This might be a silly question....but my OB is just wanting to do the verifi test and not the NT scan. Is this normal? Or should I be doing both? FTM...so I have no idea!

hopeby2015 · November 2014

My OB did the NT scan and blood work for 1st tri but when the results came in from the Maternit21 test, no further blood work was done. Hope it helps!

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high risk from verifi, but low risk from NT scan

Re: high risk from verifi, but low risk from NT scan

Me 33, DH 37 -- TTC since Jan'12 -- Low AMH (0.78) & endo, SA w/ low motility
IUI's 1-3 = BFN, IVF converted to IUI 4/13 = BFN
IVF 1.2: 8R 6M 4F -- 2 blastocysts frozen, FET 8/15 = BFP!!
Beta #s = 445;1,098; 9,545 -- EDD 5/2 -- Team Pink!

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Want a personalized experience?

high risk from verifi, but low risk from NT scan

Re: high risk from verifi, but low risk from NT scan

Me 33, DH 37 -- TTC since Jan'12 -- Low AMH (0.78) & endo, SA w/ low motilityIUI's 1-3 = BFN, IVF converted to IUI 4/13 = BFNIVF 1.2: 8R 6M 4F -- 2 blastocysts frozen, FET 8/15 = BFP!!Beta #s = 445;1,098; 9,545 -- EDD 5/2 -- Team Pink!

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Me 33, DH 37 -- TTC since Jan'12 -- Low AMH (0.78) & endo, SA w/ low motility
IUI's 1-3 = BFN, IVF converted to IUI 4/13 = BFN
IVF 1.2: 8R 6M 4F -- 2 blastocysts frozen, FET 8/15 = BFP!!
Beta #s = 445;1,098; 9,545 -- EDD 5/2 -- Team Pink!