results. sort of...July 28 2012 at 12:31 AM
|BroodyHen (no login)|
forgive me that this is incoherent, but it is complicated:
i went in for my nuchal scan today. the nurse was great, right away showed me the heartbeat and right away showed me the nuchal was thin and measured it at 1.2. what a sigh of relief. she showed me the nasal bone, both legs, both arms, even fingers. it was great. while this is going on my GC comes in the room to tell me that much to their shock, materniT21 was actually able to test my blood sample. the very same sample that verify could not test due to too much maternal DNA. the materniT21 results are negative. hooray! its a celebration! but then they tell me to wait for the doctor to come in and not five minutes later the doc is telling me that my state screen test (you know, that combines the blood work with the nuchal measurement to give odds for trisomy 21 and 18) has come back POSITIVE. my revised risk is 1:32 for downs (down from 1:48), negative for trisomy 18, 1:1,000. what?! but the blood test says negative - lets go with that! the state screen is notorious for false positives, especially for the over-40 set. it is only a screening test. yeah, yeah, they tell me that materniT21 and verify are so new that they are not really 100% trusting it (so why offer it?). that these tests say they have specificity of 99.9% but that it is with such a small sample (hundreds) that we can't count on that and over time with more women being tested the accuracy rate will surely go down. plus, since verify couldn't even test my sample at all, it makes them suspicious and cautious to accept the materniT21 results. since they use the same technology, it doesn't make sense that one company could test the sample and another couldn't. incredible that i insisted on having both companies test my sample (part of my argument for double testing was to account for differences in the lab!). i find it strange that the GC is unwilling to accept the materniT21 results. they almost admit that the state screen is kinda unreliable, but now hold it up as the one i should give weight to. as you can imagine, i'm confused!!!
they have recommended that we send a new sample to verify and see if they can test it (done - another 2ww). they say they'll give more weight to this new and now suddenly less reliable test if it comes up negative twice with both materniT21 and verify (interesting since they insisted it was entirely unnecessary to run the test with two companies when i insisted i wanted to for double assurance). they are basically recommending an amnio now.
further, they insist that the nuchal measurement alone is useless. they say i can take no comfort in the measurement without combining it with the bloodwork (PAPP and HCG). is that really true?
needless to say, we are a bit overwhelmed and perplexed by the turn of events here. hmmmmm.
again, thanks for listening. who else would understand how insane this is?!
|July 28 2012, 10:12 AM |
That was really a lot of information! You must have left really confused. Your NT measurement itself was great, and actually my OB says that that is the most important part of the screen at this point since (if you're doing the same sequential screen that I am,) they will be repeating those same labs plus a couple others somewhere around week 16-18. My office actually prefers not to give ratio odds to patients after the first part of the screen b/c they do not think they're useful and tend to change quite a bit by the time you get to the second part of the screen.
Now, as for the MaterniT21, my husband is actually an engineer who makes similar machines to the one that they must use to filter out the fetal DNA (his machines use DNA to detect other issues). These machines are almost certainly used in research for some prolonged period of time first before they're used in direct patient care, so those "hundreds" of patients do not take into account the many, many patient samples this technology was likely used on for research purposes (with lots of checks and balances for accuracy). I can't say for sure that this is the case with the MaterniT21 or Verify tests, but it is very very likely.
Ultimately, I think (by a wide margin) the most powerful pieces of information you got were the NT measurement and the negative MaterniT21 result. Hope you can take some relief in that as you wait out yet another 2ww! Sending hopeful thoughts!
First, I am so sorry, this must be torture!
|July 28 2012, 10:17 AM |
and second wow, this is sooo confusing. I can't even begin to understand what is going on here but will give it a couple more reads. (It's NOT your writing, it's the situation!)
I am afraid I have no words of wisdom at all except to say I am thinking of you and so sorry you have to go though this!
I was also offered the "new" blood test but my OB was rather negative on it as well, saying she thought the data was not there to support it, that is why the insurance would not pay for it. She really relies on the scan, which she felt is VERY important, and the blood test, which she said, too, has false positives, but was good as a pair. When my specialist saw ONLY the scan for me they were confident enough to say they felt we were negative, even without the blood work, so they obviously take he scan seriously.
As far as the labs that is so hard. Just making guesses but it could be that they have different criteria or protocols that made one able to get a sample and one not?
I know it's not very helpful but you were hoping that the second lab would come back with good results, and they did, plus the scan looks good. I know this will be a horrible two weeks but maybe that will help?
One other thought:
There is no need to tell anyone what you might or might not do but if you are considering taking action on these results in some way and this test might come back inconclusive again and you have doubts about it, do you want to go ahead with an amnio since, I believe, it takes a while to get those results back, too? No need to comment, just a thought.
Again, so very sorry you are going though this!
Hugs and love,
Lots of information
|July 28 2012, 1:13 PM |
This is a lot of information to receive in one doctor visit. I am glad to hear about the results for test but would also be confused by the state test and doctor's take on the nuchal measurements. All I can say is I will continue to send you positive thoughts!
|July 28 2012, 4:53 PM |
What a frustrating visit...again! I'm so sorry that you are having to deal with this and having to wait another two weeks for results.
I think the state test has A LOT of false positives. I can't speak to the other tests, because I don't know much about them, other than they are newer tests. I think the NT measurement is a great indicator. I think the MaterniTi21 test along with the measurement should provide some reassurance that all is okay. Agree with the PP that the quad screen in a few weeks time will make things even clearer. Unfortunately, that means more waiting...ugh.
So sorry this isn't more straightforward for you! But I think you should feel good that the MaterniT21 test was negative. It sounds like ti was a good idea to get it done with 2 different companies. I wonder if they use different ways to collect the DNA. I think doing it again is probably a good idea to be sure.
The nuchal measurement is not conclusive on its own because I think only about 60-70% of the down's babies have an abnormal nuchal. So it's good that its normal but not conclusive. But that test only gives you odds in any case so it's not positive in the sense that you had a positive test, but rather positive that you are in the high risk category. But you were already in that category based on age alone so it's really not that different.
You can also get an early amino at 14-15 weeks, I had one done when our nuchal results were 1:7 for a previous pregnancy. We got the FISH results back in less than a week. I can tell you more about that if you are thinking about it.
Try not to stress, I think having those Materni21 results should be really reassuring. I think the docs etc are just freaked out by it because it is new.
I'm really sorry
|July 28 2012, 5:46 PM |
I went through this whole torture and it is heck. The reality is that at age 43 you are going to test more likely to have DS even though your baby does not because they norm this by age. I hit into this at age 39! I think that the nuchal and the nasal bone are much better indicators that things are okay. Have you been on P4 support? There's apparently something about that that can mess with the blood test results for the regular test.
REALLY sorry, but please try to focus on the fact that the odds are very much that your baby will be healthy. You have two good indicators that it will: the physical measurements and Maternit21. If you have to know more, one non-invasive thing to do is a very indepth ultrasound in which they look for soft markers. They did that for me and all looked well, so they revised my risk. At that point I decided to assume that everything was okay and chose not to do an amnio. It had been so tough to get there that I didn't want to take any chance of a miscarriage. This is decision is of course up to you but at 43 it may be tough to get another pregnancy, so weigh your odds.
Anyway, hang in there and wishing you the best!
I really feel bad for you but I have to admit, I must be not understanding something. Maybe it's me, but I don't think so. So I don't want to say too much to you, but I am going to share what I know based on my own experience with this test.
It's true, while a 1.2 nuchal is VERY good, just because it was very good, doesn't mean no downs. I am telling you this because if you remember, my baby wasn't cooperating for the nuchal measurement the first time we went to have it done and I was a little bummed. Then the second time we went, it measured 1.2 and I was all excited and relieved. The dr came in and said he was thrilled to tell us this was a good measurement, BUT we STILL had to wait for the bloodwork to come back. Just because you get a great nuchal measurement, doesn't mean the baby cannot have DS. This is a fact. Some down babies have a normal nuchal measurement. That's WHY they do the blood test with it.
When I got my 1 in 127 (and you know how upset I was with this) and we met with the GC, they said, amnio, cvs or MaterniT21 test. Does the Maternit21 test work as accurately as the amnio and cvs? NO, it does not. It is 99.1% accurate. Will you have a miscarriage from taking the MaterniT21 test, absolutely NOT. Will you from having a CVS or amnio, you could. They come with risk.
This is JUST my opinion, but you said your materniT21 test came back negative. This is a GOOD thing. It TRUMPS that blood test that told you high risk for downs. Is it 100% that your baby won't have DS? No. But I would trust your negative MaterniT21 test and I hate to say this...make peace with this because this stress is no good. This whole thing was a HUGE reality check for me. I was so sick over those damn test results and waiting for the materniT21 test to come back, it was awful. And I am saying this to you because I WENT THROUGH IT and I KNOW what you're going through. Noone can understand unless you have had to wait out those 2 weeks for the test. You think the worst, despite what anyone tries to tell you. But this stress is not good for you or the baby. I refuse to stress anymore about statistics, which are so "effin" skewed by the way because we are AMA.
It sounds to me, and again maybe I am wrong but I read what you wrote several times..you got your nuchal which was awesome..then the materniT21 test came back negative..AWESOME and NOW he's telling you odds? The MaterniT21 test came back NEGATIVE, not inconclusive. Also, it just seems out of order the way you are being delivered the results. Usually, you get the nuchal scan and blood, which gives you your 1 in ____ for Trisomy 18, 13, 21... and THEN decide either MaterniT21, CVS or Amnio. At least that is how they were done here on Long Island, NY. Quite frankly, after KNOWING you had the MaterniT21 test, I don't know what the point was of him telling you those numbers. If you got a negative MaterniT21 test...those numbers go out the window. Do you see what I'm saying?
You had a 96.2% chance of all being ok. With the negative MaterniT21 test, a good nuchal, no soft markers seen- I think everything is okay (the NEGATIVE MaterniT21 test is HUGE!!!!!!!). I understand you are a little confused and unsure..but unless you do an amnio or CVS there is no 100%. These blood tests while I "get it" they're important, blah blah blah... seriously- I think are just awful for anyone over 40. I have half a dozen friends who conceived at 39, 40, even 43 who had babies and they are all okay and their odds were less than yours and mine. The irony is that half of my friends didn't even DO the screens because with their age, they didn't want the stress. Honestly, with a negative MaterniT21 test..I'd say you are OK- GOLDEN.... and I would not do anymore testing that is just going to cause you stress during a precious time that you so deserve to enjoy! I hope this makes sense...
|July 29 2012, 10:09 AM |
How unnerving. I would definitely say wait for the new results to come back. You never know why they found your first sample "untestable." Maybe the lab tech was having a bad day, or the centrifuge was broken, or they set the thermocycler wrong. No other advice, but to hang in there!
thank you so much for the support!
|July 30 2012, 6:42 PM |
i really appreciate it that you all took the time to read my long post and respond. i take comfort from it, really. believe it or not, i'm not that stressed out. i've been really super busy with work and that helps keep my mind off it. but it is a mind-bender no matter how i slice it, and the pendulum just swings back and forth -- one minute i'm all in for an amnio and just ready for a definitive answer, the next i can't believe i'd even consider an amnio for a second and am ready to just move forward regardless. at 43 and with all the autoimmune/clotting stuff this is definitely my very last chance, so the stakes just feel really high. anyway, i am taking all your good advice and focusing on the good news and waiting to see what the retest with verify says. i'll let you know when i know...
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