NIPT - questions, discussion, results

cait32 · December 2016

Starting a new thread that hopefully is relevant for some of us...

For anyone doing non-invasive prenatal testing, when are you doing it? My doctor said I can do Panorama at nine weeks, but I've heard of people getting inconclusive results because of not enough fetal DNA, so I'm wondering if I should wait a bit.

Anyone else have info or questions? I started a thread back at the beginning because I didn't really even understand NIPT or what to ask for, so if others have questions, this might be a good place. June has a thread going on their results.

akbride09 · December 2016

The NP who performed my u/s said I could get one "any time", but after consulting with the OB it was changed to "10 weeks and after". I plan to get it because I'm 39, at my Dec 28 appt

dancegurl1118 · December 2016

I'm not covered for any Panorama or testing like that, I'll be getting the NT scan probably at 11 weeks which is the earliest my MFM does it, just so I have adequate time to make a decision about more invasive testing if need be.

cait32 · December 2016

@dancegurl1118 I'm actually not covered for Panorama either, but Panorama said when we get the bill, just call them and they'll reduce it to under $200 for us. Their estimated charge was actually $130. I'm not sure how/why they do this but our midwife said it is, in fact, what they've done for all the women she's seen go through it. Sounds like you're good to go for NT but wanted to throw this out there in case it helps anyone else.

satsumasandlemons · December 2016

I haven't spoke to my ob/gyn about it yet because I haven't even gone in for my first u/s (!!) but since I'm 36, I'm hoping I'll be covered for it. Both ob/gyns (I've made an appt with one closer to me and may not stick with my last ob/gyn) mentioned when making my appt that we'look discuss at my 8wk appt and scheduling it for 10 or 11 weeks. They didn't mention what test though so I'm curious what the differences between harmony (which friends back in 2011 when I was first pg took), maternity something, or panorama test are - a few people recommended the panorama but again - no idea beyond that.

satsumasandlemons · December 2016

Oh here's a question: if you take a nipt, does that mean you don't need to do the nt scan at 12/13 weeks??

cait32 · December 2016

@satsumasandlemons I don't know much about the differences. My birthing center recommends panorama and I'd read enough about it that I felt good with that.

My midwife said neither NIPT nor NT scans are diagnostic, they just assess risk, so there was no reason to do both. Your insurance may cover one or the other. If we were to get troubling results on the NIPT, she said we'd sit down and discuss what further tests made sense given the results (such as an amnio). Basically she said I didn't need both and she felt like NIPT gave us more information.

cait32 · December 2016

I should also add, at my birthing center, the only standard ultrasound is the fetal anatomy scan at 18-20 weeks, so my high anxiety FTM brain felt like I'd worry until I saw something to indicate that things were okay, so we're doing the NIPT and a dating ultrasound, both out of pocket, just to ease our worries. Hoping that when I get pregnant with #2 I am more able to go with the flow.

mj8215 · December 2016

Thanks for starting this thread @Cait32 !
H and I are currently struggling with this decision.
The ACOG has some good information on it here:
http://m.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy

To me the main argument against doing this is the low PPV in the general population (see table1 in the document linked above).
Not to get soapboxy again, but... sensitivity and specificity of a test depend solely on how good the test is technically (ie how good the biotech behind the nipt is or how skilled the sonographer doing nt is).
PPV depends on the prevalence in the population (ie what's the frequency of tri21 in gen pop). According to document linked above, PPV for general population (tri21 1/1000) is 33%. This means that if someone tests positive, the chance of them actually having that abnormality is 1 in 3. That's what's holding me back. The potential agony of a false positive.

Still deciding, and very interested to hear everyone's thoughts! Really appreciate having you all to discuss this with!

glitterfish-2 · December 2016

My office does it along with the NT Scan, so the earliest they would let me is 11 weeks, so I'm going 12/14.

cait32 · December 2016

@GlitterFish my midwife emphasized over and over that it is NOT diagnostic--that having something show up as higher risk would mean doing more testing. For me, while it would be a nightmare to have it show up and do more testing, I'd still rather have that option than not knowing at all, if that makes sense. So we're going ahead and we'll discuss next steps if and when we need to...

Cynth0104 · December 2016

This is an option for me at my 12 week appointment on 12/28. I will also be doing the NT scan than. I think I have decided that I am going to do it. The company my OB uses bills insurance and then writes the rest off so there is no charge to the patient

thatcma · December 2016

I am doing my NT scan on 12/28, and if needed we may do further testing. At this time we have done the regular blood tests (hep b/c, STI tests, cystic fibrosis carrier) and all of those came back normal. We will not be doing the panorama test as it is not covered for us by my insurance and we don't want to pay extra either.

ladipale · December 2016

I've been struggling with this the last week or so. I'm over 35 so the state of CA pays for these tests for me. We haven't done any genetic testing with any of my pregnancies (2 kids, 1 loss) and I always get a dread/panic when we approach anatomy scan. So I don't know what we are going to do this time...

theweevee · December 2016

I'm over 35 and my OB didn't mention anything at my first appointment. At my second I'll be 12 weeks. I'm hoping to raise it/ask about it since the materials from the office say they recommend NIPT. But I still find it odd that's she didn't say anything.

i do know that they will do the test in house (I saw the panorama forms when I got by first appointment blood draws), so hopefully she would discuss at do it the same appointment? I'm in CAa, so maybe that's why she didn't mention it already (as it would be covered by the state).

satsumasandlemons · December 2016

@ladipale I didn't know that about the state paying for nipt. The outcome of the tests would change things for us pregnancy-wise, so if something comes up with this we will continue to test until we can narrow down the odds and make some decisions at that point.

yellow1daisy · December 2016

We did this with my daughter--the panorama. I was 10 weeks when the blood was drawn but she was measuring closer to 11 weeks. I had 4 losses before her and 2 confirmed chromosomally abnormal so I really needed it for the peace of mind. And it gave me that, and I have no regrets (it's also how we found out we were having a girl!)

I definitely want to do it again. This time my first appointment won't even be until I'm 10 weeks and I'll ask if they can do it that same day if all shows well on the U/S. If not, hopefully they'll let me come in another day that week for it.

And we we had issues with insurance not covering even after speaking to them before getting the test where they said they would because of my history. But we ended up paying something like 20$ so it really wasn't a big deal.

satsumasandlemons · December 2016

@yellow1daisy only if you don't mind me asking: what were your next steps after testing came back for chromosomal abnormalities? What does it mean and does that mean you just take another test?

abmommy15 · December 2016

We will do the NT scan (did it last time as well). The other tests have never been mentioned to me (low risk, under 35 and in Canada...not sure which or all of those factors are the reason) so I don't know if it would even be an option. I'm all about the pre-screening because I like to be prepared for what's to come. Knowing obviously doesn't change anything but gives me time to research and arm myself with knowledge if the scan did happen to show a higher likelihood of something.

yellow1daisy · December 2016

satsumasandlemons said:

@yellow1daisy only if you don't mind me asking: what were your next steps after testing came back for chromosomal abnormalities? What does it mean and does that mean you just take another test?

@satsumasandlemons the testing that came chromosomally abnormal wasn't the cell free DNA test. I only had that done once with my daughter and it came back clear. So there were no next steps.

*TW**miscarriage mentioned*

They were results from miscarried tissues from pregnancy losses. One through d&c and another through me saving the tissue at home. Sorry I know this is morbid.

Xath · December 2016

We're doing both the NT scan and the Harmony at my 12 week appointment. My MFM recommended both because the NT scan can also reveal antomical abnormalities and he can perform both on site. He just replaces the blood work you'd normally do with the NT scan with the Harmony. This will be my first pregnancy doing NIPT; we didn't confirm any chromosomal or genetic abnormalities with my prior losses, but he wants to check and I'm on board with that.

I'm generally on team "more information is almost always a good thing." Though my H and I have discussed it and a positive would not change anything for us unless it was terminal. I just do better if I have more time to process/prepare.

dancegurl1118 · December 2016

Even if abnormal results wouldn't change the course of my pregnancy (termination, etc), I would still rather be well prepared prior to delivery and so on. BUT THATS JUST ME, I could see how it would cause stress or anxiety to some.

virginiaunicorn11 · December 2016

dancegurl1118 said:

Even if abnormal results wouldn't change the course of my pregnancy (termination, etc), I would still rather be well prepared prior to delivery and so on. BUT THATS JUST ME, I could see how it would cause stress or anxiety to some.

Yes - for us, we have a choice of many different hospitals and birth centers, so it would have huge influence on where I'd deliver. I need to speak with insurance about what they will cover before we make a final decision.

Germany is now using something called the PrenaTest which Google tells me is a bit like Harmony but doesn't test for Trisomy 13. I am not sure we will do this test - may just opt for the nuchal scan, but we shall see.

MrsN092714 · December 2016

I have an appointment on Thursday to discuss this. We are definitely opting to do the NIPT and have to pay for it out of pocket but are doing it almost entirely to find out what blood type the baby is (we are praying it's negative). According to the paperwork I do have on it so far it says anytime after 10 weeks but we are gone for Xmas so I think it'll probably happen around 12 weeks. I'm not sure what the name of the testing is here (in Canada) but will find all that out Thursday. If I can pay for this and avoid an amino I'd be really pleased. An amino scares the crap out of me

longhairdntcare · December 2016

We are doing the NT scan (12/21). As others have said, it won't change anything for us. We are really doing it just because I don't think I can wait until the anatomy scan to see the little babe again! haha. I am honestly not sure what blood work my OB ordered along with that. She mentioned that I needed to have it done before my next appointment (which is after the NT scan) but didn't elaborate on what it included. I guess I probably should have asked.

GoogleMD · December 2016

MrsN092714 said:

I have an appointment on Thursday to discuss this. We are definitely opting to do the NIPT and have to pay for it out of pocket but are doing it almost entirely to find out what blood type the baby is (we are praying it's negative). According to the paperwork I do have on it so far it says anytime after 10 weeks but we are gone for Xmas so I think it'll probably happen around 12 weeks. I'm not sure what the name of the testing is here (in Canada) but will find all that out Thursday. If I can pay for this and avoid an amino I'd be really pleased. An amino scares the crap out of me

I would double check that blood type is included. The NIPT I did last time did not include it, I did a seperate one that checked only for rh type. Just fyi.

KissMeImScottish · December 2016

I tend to be pretty high anxiety (I have clinical anxiety/panic disorder), so after taking with my doctors during my last pregnancy and reviewing our family history, mine and my husband's age (young, healthy), and considering my anxiety level and that, barring a condition that was incompatible with life, our decisions would not be altered, we decided to forego all testing except the standard anatomy scan.

As as others have said, though, it's an extremely personal decision that has to be made with your state of mind taken into consideration. What really sealed the coffin for us was the fact that most of these tests, as has been mentioned, provide a statistical probability and, if you fall outside or on the far end of the "normal" spectrum, it may or may not mean that something is wrong, thus necessitating further testing. Again, with my anxiety, the wait of things had come back abnormal was just not worth it to us.

However, if there was any sort of family history or personal history or extenuating factors, our decision might have been quite different.

cait32 · December 2016

For anyone doing Panorama, I just got this tip from the June 2017 thread. There's a code on your Panorama testing box. You should write down that code (or take a photo of it), because you can get your results on Natera's patient portal before they even go to your doctor. One woman said she got them in 6 days that way. Several women said they didn't know to get the code, so they had to wait until the results got to their doctor and uploaded. Just a tip!

I'm going to go do all my bloodwork on Saturday at 9+3 so I hope to get the all clear (and the gender) before Christmas.

realgoodthing · December 2016

I have a VERY DUMB question about this. When I went to my scan last week, they drew a lot of blood to determine if I'm a carrier for a bunch of stuff. Is that NIPT? If not...um...what exactly is NIPT? My doctor hasn't talked to me about it.

cait32 · December 2016

@leilac, I'm no expert but I've learned a bit because of asking lots of questions. There is carrier testing (I don't know all the names), and then there is NIPT. NIPT actually looks at fetal DNA in the mother's bloodstream, and carrier testing/screening just looks to see if the mother is a carrier of potential conditions (such as cystic fibrosis). If the mother is a carrier, then they'll want to test the father, and then determine a course of action to potentially test baby. The NIPT (Panorama and Materni21 are the two I hear the most about) asses the rest of several chromosomal disorders such as downs syndrome. They also can reveal sex since they're looking at fetal DNA. None of these tests are diagnostic -- they will not tell you if your child has a disorder. But they'll tell you a risk level, and that will indicate whether you want to get more testing. For example, if your NIPT comes back with a 33% risk of downs syndrome, there's still a good chance your child is 100% fine. But they may recommend you do an amnio, which IS diagnostic, or they may refer you to a specialist to do other tests. I hope that helps a bit. If you're under 35, I don't think NIPT is typical unless you ask for it, so I doubt that's what they were doing (though maybe)? If its something you're interested in, might be worth asking your doctor about. I was told you can do it at any point in the pregnancy past 9-10 weeks. It sounds like some folks are doing the NT scan in addition or instead of. My doc recommended panorama and said if we came back with anything high risk, we'd assess from there whether to do an NT scan or future tests. NT scans also are not diagnostic.

ETA: changed gender to sex...sorry, brain fart on that one and I usually try to really make sure I use those correctly

realgoodthing · December 2016

@Cait32 Thank you! That's super helpful! I'll discuss with my OB next week, but I think we'll probably wait to see what the carrier testing comes back with and then go from there.

mjacks16 · December 2016

I went to my first OB visit yesterday, and the first thing they had on their list of tests/appointments was Panorama. I asked how much, and they said should be $0 because some board is making it available to everyone, not just over 35. Maybe I just got lucky with my clinic as it is a faculty practice at the hospital. So I'm doing blood work for it next week and also the NT scan in Jan.

lph4248 · December 2016

I'm so curious about how the Panorama test is only $100-$200 (with coinsurance), whereas the NIPT my doctor offers is $3000 (but covered if medically necessary). I'm looking into getting the Panorama test at another provider but I'm like, what's the catch???

cait32 · December 2016

@lph4248 my understanding is it's just the companies policy because they're trying to promote the test. You can get on their site and call them to discuss it.

longhairdntcare · December 2016

pro-tip : Anytime you get a bill for anything not covered by insurance, you can call and negotiate. They will usually take off 20-60%!!

I used to work at a personal injury law firm and we always negotiated medical bills down for our clients.

MrsN092714 · December 2016

@googlemd Thanks! I will definitely making sure it is a part of whatever testing we do. it's really the only thing we want to test for. It will play a huge part in how this pregnancy goes.

RunRestRepeat · December 2016

@MrsN092714 Do you mind me asking why blood type will play a huge part in your pregnancy! Feel free to ignore if I'm being too nosy - I'm just curious!

MrsN092714 · December 2016

@runrestrepeat I don't mind at all. After my MC (which is when we believe it happened) I was sensitized. I am O- and my husband has a positive blood type. My dr failed to give me the rhogam shot and I now have D antibodies present. If we end up with a baby that has a negative blood type I will be monitored but the chances of anything going wrong is very low. If this baby has a positive blood type the antibodies in my body will pass through the placenta and depending on the volumes of antibodies present can cause mild to severe anemia in the baby. If that happens we would be looking at interuterine blood transfusions to keep the baby going until we hit a point of it being safer for the baby to be delivered than to be inside me. If we are lucky and the antibody titers stay low we would probably get off with some jaundice and some time under the bili lights, the more extreme cases result in more blood transfusions once the baby is here, usually an early delivery and some time in the nicu.
Long story short, we are really hoping for a baby with a negative blood type to avoid a lot of extra testing/ worrying.

RunRestRepeat · December 2016

@MrsN092714 Oh my gosh! I knew about the rhogam shot (I'm A neg and we don't know what DH is) so I know to expect it - I figured I must be missing something!

I can't believe your doctor failed to give you the shot - I'm so sorry you now have to deal with extra stress. Fx all goes well with your testing!

glitterfish-2 · December 2016

@Malmada18 This whole thread is about the NIPT tests, one brand of which is the Materni21

MrsN092714 · December 2016

@runrestrepeat I knew about the rhogam shot as well and brought it up several times with my dr throughout my miscarriage, which just makes it that's much harder of a pill to swallow. He did prescribe it to me 2 weeks after I started bleeding but the blood work before the prescription showed the antibodies were present. Thanks for the well wishes, we definitely have our fingers crossed.

I wish that when the rhogam shot is initially discussed that the aftermath of not getting it was also talked about. I had absolutely no idea that this was the result and on these boards (not July, or not yet anyways) I've seen people talk about refusing it... it just seems crazy to me. It's so important, even if you have a tiny bleed, get to the dr, get the shot within 72 hours.

NIPT - questions, discussion, results

Re: NIPT - questions, discussion, results

Choose Another Board

Search Boards