NIPT/NT/FTS Discussion thread

LJMoon6

A thread for everyone to discuss testing options, results, ask questions etc

NIPT (noninvasive prenatal testing)
NT (nuchal translucency test)
FTS (first trimester screening)

LJMoon6

I figured I’d start this thread since we’ve already been having questions on the topic.

I’m planning on doing both the NIPT and NT scan.

This was actually a big issue with my previous pregnancy. My OB did not want to order both of them. Generally, if you’re getting the NIPT then it’s not recommended to do the NT scan, since it’s somewhat redundant (or at least this is what my OB was telling me). But, while the NIPT is highly accurate, it only tests for a limited number of abnormalities. The NT scan, on the other hand, could come back with a high reading for many different things that the NIPT doesn’t test for. So this is what I tried telling my OB but she still said no. Luckily another OB in the same clinic completely agreed with me and ordered the test for me. Needless to say, I switch to her after that lol.

laeberge3

Is it weird that my OB's practice does not typically include the NT scan? They offer NIPT if you want, or you're old like me (haha), but there's no standard NT scan. 

feather_heather

@LJMoon6 - Also planning on doing NIPT and an NT scan. I had both during my last pregnancy; but I think it's pretty standard at maternal fetal medicine practices. Last time I was considered high risk due to cardiac issues and an IVF pregnancy, but I'm assuming it'll be the same procedure this time around since I'm still considered high risk with just the cardiac stuff. 

inthewoods23

I'm sure I'll be learning all about this tomorrow at my intake appointment. My RI mentioned having quad testing done which to my understanding is done at 16 weeks. Anyone know how that differs from the NT scan or NIPT?

bumblebee0210

@inthewoods23. I think quad screening is the combination of NT, some blood work, and maybe some other stuff? I think the idea is that all of the tests are a little noisy, so if they all point in the same direction, it paints a pretty clear picture.

I had both NIPT and NT in my previous term pregnancy-- I agree they aren't substitutes. 

tuxielove93

I have always opted for the NT scan. Partly because insurance actually covers that one. Mostly because it seemed like I got one or the other and I ALWAYS want to see baby. I’d get an ultrasound every week if I could 🤣 
just got my referral for it today! I’m gonna schedule it right before Christmas. We were able to tell the gender the last two times at this scan, so I’m planning a cute gender reveal for hubby and me for Christmas 😍😍 worst case scenario I’ve ordered a delicious cake we’ll just have to eat anyways. 

runnergirl2018

Interesting. At my last office the first trimester screening and NT scan were standard and NIPT and some others were optional. I’m at a new office now since we moved. I already told my OB I want nipt when it’s time and we’ll talk more about other things at one of my next appts. 

LJMoon6

@laeberge3 Its my understanding that NT is usually standard. But that could be changing now that NIPTs have become more popular.
@feather_heather I'm also considered high risk. But that still didn't get me qualified for the NIPT with my insurance. So we just decided to pay for it out of pocket. It was worth it to me.
@inthewoods23 I think the quad screening is like the FTS (I edited the original post to include that as well). It's like how @bumblebee0210 explained it. I think it includes some blood work in the early first tri, the NT scan, and then some additional blood work in late first tri/early second. I'm unsure of the timing for the tests. These blood work tests aren't as accurate as the NIPT though. But I also think the later blood work looks for neural tube defects, which the NIPT doesn't test for. So many different options out there. Yay science!

sjb2215

I've elected to do the quad screen with both my previous pregnancies- it's just a blood test that looks for 4 different markers which could be indicative of down syndrome, additional trisomies or neural tube defects. I don't think I got NT scan and didn't get NIPT either. I think it also partially depends on your location/doc preferences as to what's discussed/offered

inthewoods23

Hmmm so it looks like I would get either the NT scan or NIPT. I think the one my clinic offers specifically is called the MaterniTi 21. I doubt I can do both. Since I'm already having weekly ultrasounds through 12 weeks, does it make more sense for me to just do the NIPT? I know the NT scan is a special ultrasound.

Idk thoughts?

caymanmel

I hate to sound naive but what is the reason why you would get one? 
Last pregnancy my doctor told me would the results change your opinion on keeping the baby.  I said no.  So he said there is no point in getting it; so I didn't.  I still kind of agree with his statement though.  I feel like if I found out my baby had down syndrome I still would obviously keep him or her. But I would stress out until the pregnancy was over vs just enjoying the pregnancy.   

sunshineandlemons

@caymanmel I chose to get those tests for my first two kids and will for this baby because I want as much time as possible to look for special daycare if I would need it and I’d want to let my family and friends know ahead of time. I would hope they would process that information ahead of time so they can be happy with me when the baby is born. Obviously, I pray nothing would be wrong but I would want to be as prepared as possible if something were.

katy5787

I did NIPT, NT, and the quad screening for my first pregnancy and have no regrets. I will be doing all of them again for this pregnancy.

runnergirl2018

@caymanmel even if you would keep the pregnancy no matter the results, it’s much better (IMO) to know and be able to plan for any potential special needs or complications. Getting the right medical team together, preparing yourself, adjusting anything you might need to for your environment or childcare needs

LJMoon6

@inthewoods23 This is basically what my first OB said to me last time. I could only do one or the other. If I absolutely had to choose, then I would probably do the NIPT. Here’s what it tests for:

Trisomies (Trisomy 21, 18, and 13)

Sex chromosome abnormalities (Monosomy X, Klinefelter syndrome, Triple X syndrome, and Jacob’s syndrome)

Microdeletions (22Q11.2 deletion syndrome, Prader-willi syndrome, Angelman syndrome, 1P36 deletion syndrome, Cri-Du-Chat syndrome)

Triploidy

Here is the Natera webside that breaks down what each of those abnormalities mean.

On the other hand, the NT scan measures how thick the nuchal translucency is (which is located at the back of the babies neck). If the measurement is large then that could indicate there’s something wrong. A common cause of a large measurement is from chromosomal abnormalities (this is why doing both NIPT and NT are a little redundant), but there can also be other abnormalities that aren’t chromosomal that cause a large reading (such as fetal malformations and heart defects). There was actually someone in my last BMB that had this exact situation happen (NIPT looked completely fine but NT scan was off. They ended up TFMR).

For me it’s important to get both. I am considered high risk because of a malformation that I personally have. There seems to be a potential genetic component to neural tube defect in my family. Plus I also have a family history of heart defects. So overall, if I can get both then I will.

@caymanmel Depending on the results, we would TFMR. And like others have said, it’s better to know ahead of time so we can prepare for it.

tuxielove93

@caymanmel

**** I’m just gonna TW this whole thing ****

I’m trying my best to not be flippant but also, I’m not super duper informed on the different conditions that can come up. Just trying to give some examples. 

So I do the test because (especially considering I already have two children and we’re not exactly cash flush) we would probably TFMR. BUT even if we didn’t, I would want to know about anything going on as far in advance as possible. I’m planning a home birth so that would probably be off the table. If there was anything medically they could do pre-birth, I’d want them to do it. Certain heart defects can be operated on in the womb now. The pregnancy may need extra monitoring. I would be prepared to potentially lose the baby anyways due to whatever kind of malformations are going on. It isn’t just Down’s syndrome they are looking for, which I think is what a lot of people think of. I don’t know a ton about Down’s syndrome itself, but I know lots of people with it can go on to lead relatively normal, healthy adult lives. Or at least that is how it is displayed. So maybe downs isnt a huge deal to most people. But Some of these chromosomal abnormalities mean that baby won’t even make it through birth, or wouldn’t be strong enough for a vaginal birth. Or might not make it to full term. Or might only live to be 5 or something like that, with a lot of medical intervention along the way. 

So even if you would still want to try to save the baby no matter what, it’s better if you know and they can do whatever they can along the way. It’s just better to be fully informed as soon as possible so you know what you’re taking on and can get all the extra monitoring and care you need. 

I’m sorry if this was harsh. Just trying to answer your question honestly so you can really think about it. I’m shocked your doctor was so flippant about it. I’m not super informed, but they have advanced SO MUCH in terms of what they can do to save babies even in the womb, that I’m floored your doctor acted like it didn’t matter unless you would TFMR. 

rubyrose_0919

Thanks for adding all that @tuxielove93

Another thing to tack on here is that some of the conditions that can be detected on NIPT testing also can be a serious, even potentially fatal, health risks to the person carrying the baby. Moms can develop something known as "Mirror Syndrome." This is caused when a fetus has issues with fluid regulation, it can present as pre-eclampsia and moms can develop 'mirror' physical symptoms to the condition their baby has. This is especially risky/dangerous when the baby will not survive the pregnancy or birth. 

***TW***
Sharing this here because this was the case with our loss due to Turner's Syndrome (Monosomy X) at 22 weeks. Our baby would not live or survive birth, she had no lungs and many other physical ailments that were not "compatible with life," but further, my doctor believed that I would not survive the pregnancy if our sweet baby girl continued developing....  💔
***END of TW***

We are grateful for the NT scan and the NIPT testing that we were offered... they probably saved my life.

tuxielove93

Help. I can't find a place to schedule my NT scan. I have a homebirth midwife who doesn't have an ultrasound machine/tech in house, so she sends the ultrasound out. Where she sent me too does not allow anyone at the appointment, which really isn't an option for me. Ignoring that I want my husband and kids there, I don't have childcare. I have tried calling multiple OB offices, none of which will do it either because they don't have a special "perinatologist"? on staff, or because they refuse to take outside patients. What am I even looking for here!? Am I seriously going to have to go have an appointment with someone just to get this scan? I'm already pushing ten weeks, I'm worried they won't even be able to get me in and get the scan done in time. What do I have to google to find a place that will do this scan? 

runnergirl2018

@tuxielove93 does the place she sends you to do the scan? my OB doesnt allow anyone else besides the patient right now, so it's always a pain - i'm a psychologist with a crazy busy work schedule for the 3 days I work and the other days i'm with my kiddo, so i always have to find someone to watch him or hubby has to adjust his work schedule the day I have appts.  I would go that route if you can't find somewhere else to go

katy5787

@tuxielove93
Usually an MD has to order tests like this. Do you not have an OB you’re working with as well during your pregnancy? If not, you may want to consider working with one if you want to have these tests done. My OB orders the ultrasounds and I have to go to a special maternal fetal medicine center where they have radiologists and MFM doctors on staff that specialize in reading these scans. 

Also, sorry to hear they won’t allow others. My entire first pregnancy was in 2020 during COVID and my husband couldn’t come to anything except the delivery. It was a big bummer since it was our first baby.

tuxielove93

@katy5787 I have a midwife. I’ve always had a midwife and never had this issue getting these tests. The real issue is that where she tried to send me I can’t go, and somehow despite living in a really large city I can’t find anyone else who will do it either. 

I think I’m just going to schedule an apt with the place that I know allows kids and let them order the test and then just go back to my midwife. It’s a waste of everyone’s time but whatever. My insurance covers the visit entirely so I guess it doesn’t matter much. 

elsalee26

Has anyone else had the NIPT be their first interaction with a medical office?

I got my NIPT bloodwork done yesterday at 10+2. So glad to get it done because I want all the data, but think it’s weird that my office did that bloodwork but won’t see me to confirm pregnancy/do an US til I’m 12 weeks. They treat my home tests as the only confirmation. My midwife marked that it’s a singleton pregnancy on the NIPT form, but we don’t even know that yet!

LJMoon6

@elsalee26 I don't think it's that uncommon to not have repeat betas and early ultrasounds right away. In fact, if you're healthy and have had no complications from previous pregnancies or miscarriages, then I think it's fairly common. It is a bit strange that you're getting the NIPT done before even seeing your OB (i read your comment again and see that you said midwife. I don't have experience with a midwife but I think they would be pretty similar in scheduling). If you want to get repeat betas, I don't think there's anything wrong with asking for them. It can be reassuring.  If your midwife still refuses then I would get a new doctor. Find one that you feel comfortable with and you feel heard. (although, repeat betas at this point might not be very useful. It might be better just to wait for your NIPT results to come back).
But I think I might be in the same boat as you with not seeing my OB before the NIPT. I will have an intake with the nurse next week but wont get to see my OB until mid Jan (her soonest opening). I'll be pushing to get the NIPT taken at just past 10 weeks, so that will be before my OB appointment. I'll also be pushing to schedule the NT scan during my intake appointment, since that will likely need to be done during the same week as my first OB appointment. I don't want to risk missing that window because of scheduling.
Anyways, yay for getting the NIPT done already! When do you expect the results to come back?

elsalee26

Thank you for your response, @LJMoon6 ! That makes me feel a lot better! All of the statistics freak me out re the first trimester, but my midwife emphasizes “no news is good news” and so I’m trying to remind myself of that :) I should have the NIPT next Thursday or so...really looking forward to finding out more about the baby and learning the sex!

runnergirl2018

@elsalee26 I think it’s a little strange. With my first kiddo my first appt was at 9 weeks and then we discussed testing and I had labs drawn the next week for NIPT, but like how do they know how many babies are in there? And what about counseling on all the testing options?
I also will say (not to be scary) but my last pregnancy was a MMC and I had no symptoms to indicate it - I had lots of pregnancy symptoms as if all was normal and was so glad I was seen early and it was identified. I’m not saying that’s the case for you but that kinda stuff does happen so I never understand why providers don’t see people sooner 

elsalee26

@runnergirl2018 that’s exactly what I’m worried about and why I thought this was so strange! I know MCs are common, and I’d definitely like to know earlier than later (and honestly save $ on things like NIPT if it’s not a viable pregnancy). This is our first and I feel like the learning curve is very steep.

bumblebee0210

@tuxielove93. I think you might be out of luck if you're looking for a place you can do your NT with a bunch of people in tow. Where I am, covid restrictions still keep even spouses out of a lot of appointments. Can your husband watch your other kids while you go? Maybe he can just drop you off and take the kids somewhere and then they can all come pick you up?

caymanmel

Thank you ladies for all the responses on my above question.   It gives me a different outlook on it and the importance it could serve for us and our baby. 

jamidine

@elsalee26 I would suggest it’s super uncommon to get your NIPT before a “confirmation” appt. I actually asked about that this time around - I’m 38 and my OB was pretty booked up and it was looking like I might not get an appt until 11+ weeks. I asked if I could at least schedule my high risk stuff (what I lovingly referred to as “old people pregnancy stuff”) before that appointment and she said no, because the doc has to refer me for it (fyi I’m on a ppo so it’s not an insurance thing, just a procedural thing apparently).  Luckily they are able to squeeze me in next week at 8 wks 4 days and I can make my NIPT and NT appointment after that.  Weird that you’re being referred for what are essential follow-ups without a dating confirmation, but I’m sure there’s a reason. Good luck!

tuxielove93

@peppylilfoxy here’s the whole thread so you can read through! 

skilouise

Argggggggh, the blood draw for the NIPT was on 12/6 and I still don't have the freaking results. 

I called Natera earlier, and had this exchange: 

N: We received the results on the 8th.  Normally it takes a week for the results to be sent to your doctor, and then your doctor has to release results.

Me: OK. Can you confirm when the results were sent to my doctor? 

N: we don't have that information.  It goes from our lab to your doctor. You need your doctor to release it. 

Me:  so... you don't know what your own lab has or has not done yet? 

N: No, we do not. 

Ugh. 

moreamoozzarella

@skilouise That's so annoying.

runnergirl2018

@skilouise so frustrating! 

On a similar note I was scheduled to o see my OB yesterday to order my NIPT and NT and both the obs in the office were stuck at the hospital and I still haven’t gotten a call back. The OB I was scheduled with yesterday wasn’t in today since he was on call and the nurse I spoke with said my Chart wasn’t in the office and She thought he had it. I have no idea why the other OB couldn’t take care of it. My work days are so long on Monday and Tuesday I won’t have time for labs until wed And I’m bummed there is totally no chance of announcing baby’s sex with pregnancy announcement … and a little nervous about not finding out about potential issues before we announce

peppylilfoxy

@skilouise that's annoying. We have an app here where we can access all our personal medical information any time so even if our doc hasn't called us yet, we could see the report on the app. Maybe it's a Canadian thing though.... It's done through our provincial health care

stardustskies

@skilouise you'll probably have the results on Monday. When I had it done with my first, they told me it can take up to 2 weeks.

knottiea39a0b7774145892

@caymanmel I would find out just so I can prepare  mentally if it was a genetic defect that was not viable with life. I personally would never terminate the pregnancy, but I would try my best to help prepare my other children and family for that loss as well. My children are all so in love with baby and I'm only 12 weeks. It's is everyone's personal choice. But if my ob ever denied or tried to sway my options I would be changing ob's mid appointment. Knowledge is power. 

skilouise

Ugh, after a two week wait, my NIPT came back inconclusive because of "insufficient cells."  Booooo.  

I go in for the first trimester screen tomorrow.  It's somewhere separate from my OB's office and they do NIPT too, so I'm going to ask about a re-draw.

velvetblue88

@skilouise How far along were you for the draw? I'm a FTM, and my NIPT will be on 12/30 at 11w. I'm worried about an insufficient draw, as well, but I'm hoping that being toward the end of the 1st trimester will be sufficient.

tsh2021

@skilouise - My OB said that in the event of insufficient cells, they just do a redraw at no extra cost. That may be impacted by the company they used though. My OB used Natera I think. 

I'm also worried about an insufficient draw. I had my done at 9.5 weeks. Wasn't ideal, but the office seemed hesitant to do it at all and was telling me I would have to wait until almost 14 weeks due to the holidays. 

runnergirl2018

@tsh2021 They couldn't send you to an outside lab?

I'm having NIPT done today, i'm 11+1 and could have had it done last week but there was some craziness at the OB office so they weren't able to discuss other things with me and put orders in until last night
@velvetblue88 i had NIPT done with my first during week 10 and it was fine