NIPT Testing inconclusive - anyone else? (Harmony/MaterniT, etc)

banana2020

Hi there... new to this board ( been hanging out on my month board and just found this one ).  I'm due 1/2015 and AMA (38).  I just found out today at 12.5 weeks that my test was not conclusive.  They need 4% (DNA?) and mine came back at 3.7% and couldn't be read. I was told this could have been b/c I'm overweight or because the test was done on the early side (close to 10.5w).  

I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. However, if I go that route I lose the window of opportunity for the sequential screening/NT scan option (I've had the NT scan u/s already just b/c it coincided with the timing of my first u/s so they read the fold at the same time - it came in normal and within range but I know full well that the NT scan alone isn't sufficient).

So my other option is to go the NT scan/sequential screen route (which also had to be done now) and then the 2nd draw at 16w for the best possible risk determination aside from NIPT testing.  This is the route I took with my son (now 4.5) so I'm familiar with it. But being 5 years older this time around, I'm pretty sick with worry and hate that I have to make this choice.

Anyone else have inconclusive results? Anyone able to offer insight or commiserate? 

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banana2020

thank you for the response!

We're going the NT/quad scan route and hoping for the best.

NicoleWI

All of your options are better than mine. I am just doing the quad screen again as I did in the past. Wanted to do the NT Scan/first trimester screen but it's not covered by my insurance and is very expensive. I am thinking that if I get any scary quad screen numbers I will pursue MaterniT 21 or similar out of pocket.

gremaud07

I had the same thing on my panorama test but I was 9 weeks. I just retested yesterday since the company doesn't charge if it comes back inconclusive.

daizedoo

Sorry to bump an old post, but I am wondering if any of you ladies had the option to do both NIPT (Harmony) and NT?

My OB (through Kaiser insurance) will only allow me one test or the other, and I can't figure out why. I have a genetics counseling appointment in a few weeks that will give me more info on all my options, and I'll be far enough along to take the Harmony test - but I'm wondering if I only have one option, which route I should go.

LindsayF24

I had both. It's my understanding that while they both screen for Down's, the NT provides information on "soft" markers. The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. 

However, the NT screens for things other than Down's. It provides information on the placenta and the baby's growth.

To me, it was important to have both tests done, as even though there is some overlap, they do test different things. 

Luckily, my insurance covered both. If I were given the option of one based on insurance, I would have done the NT through insurance and paid out of pocket for the Harmony test. Reason being: the labs offering these tests seem to only bill people paying out of pocket $250. (Don't quote me on that, just what I've read.) 

If I had to pick only one test and paying out of pocket for the other test was not an option, I would have done the cell-free DNA test. Reason being: these tests utilize actual DNA and not soft markers. They are up to 99% accurate for chromosomal abnormalities.

Hope that helps!

daizedoo

Lindsay, thanks for your reply.

My OB told me having both tests done would be "redundant." Now I'm so confused, why would they not permit both tests if I'm AMA and the NT covers stuff other than Downs?

indianaalum

I would DEFINITELY choose the NIPT test. this is why

1) NT scans (look around) have TONS and TONS of false positives. you will see them all over the place here. I personally had it happen. It was terrifiying, to say the least. In the end, I was ordered a NIPT test which basically cleared me

(also, if your insurance won't pay for both, and you end up being the "false positive" group, you will be stuck either a) not knowing if the baby has downs/or false positive without doing an amnio then....or waiting for much more testing as your pregnancy progresses)

2) NIPT tests are more accurate and test for MORE genetic disorders (they also tell you sex, if you want to know). Look up their websites and they will tell you the disorders they test for and the accuracy.

3) anything that the NT scan would show (that NIPT wouldnt), the anatomy scan will also show in 20 weeks and that is a standard test for AMA people, as well.

Good luck

If I could go back, I would skip the NT scan. It lead to 3 weeks of PURE hell.

banana2020

Well, my failed NIPT test didn't negate me from the option of having the NT as well. I had the first level bloodwork and NT scan and they came back normal. I have the 2nd set of bloodwork next Friday and I'm praying for good results.  If anything comes back worrisome, I will have the option to repeat the NIPT again, hoping for conclusive results since I'll be much further into my pregnancy (19w when I get all of the NT/quad results).

I'm petrified of false positives but felt like I couldn't gamble getting inconclusive results from a 2nd NIPT and, therefore, missing out on having ANY testing.  I'm grateful insurance pays for both.  I really do feel for those that don't have as many affordable options.

bdourdoumis17

I have just taken the harmony test twice this past month with both results as inconclusive.. I have been a wreck and don't know what to do or why this is happening.. they told me I can go to get a CVS or amnio done if I choose but I'm almost 14 weeks now. I'm so confused and don't know what option to take right now. I'm 37 years old and his is my second baby. This has been really hard on me not knowing but there are so many what ifs..

banana2020

bdourdoumis17 said:

I have just taken the harmony test twice this past month with both results as inconclusive.. I have been a wreck and don't know what to do or why this is happening.. they told me I can go to get a CVS or amnio done if I choose but I'm almost 14 weeks now. I'm so confused and don't know what option to take right now. I'm 37 years old and his is my second baby. This has been really hard on me not knowing but there are so many what ifs..

Can you at least opt for the quad screening bloodwork?  I think you're too late for the NT Scan at 14 weeks but you should be able to get the blood draws, I believe. I'm so sorry!  It's really stressful, there's no doubt about it.

MsMacual

I hope your quad screen is conclusive so you get some answers.  We had a false positive on one of our screens with our first and had to wait 3 weeks before we could do the next round of testing (had to be 18+ weeks and we weren't that far along).  It was a long 3 weeks and everything turned out fine in the end.