NT/NIPT/Genetic Testing Discussion Thread

marbellie

This is a thread for everyone to discuss testing options, ask questions, share results, etc.

Note: possible trigger warnings ahead.

artsiefartsie

Good idea with this thread.  I'm currently waiting on our results and I'm so nervous 

marbellie

@artsiefartsie best of luck! When are the results expected and which test?

Truth be told I need this thread. For my O19 BMB I needed this thread and support after a really high risk level finding for  T13/T18/T21 (like a 1 in 5 chance). That was a really traumatizing week waiting to get a CVS and results back (all negative). Ugh I'm so nervous and get shaken up thinking about it. That time I didn't do an NIPT (but a screening test that just looked at 3 proteins in the blood), which is way less accurate. Hopefully my NIPT experience will be better 🤞🏽🙏🏾

artsiefartsie

@marbellie I'm so sorry you had to deal with all that stress! Fingers crossed for a much better NIPT experience. ❤❤

I got the blood drawn for NIPT on Tuesday and she said it would take a full 2 weeks.  We didn't do any sort of testing with my first so I didn't even really think about it, but my new doc recommended it this time after my previous MCs. Just the current hurdle for my nerves to focus on lol, but I'm trying to stay positive.  

sliztee

I’ve had the NIPT twice now, so if anyone wants to reach out to me about it, I’m all ears!

doodleoodle

I’m just curious if anyone has opted to do the NIPT if they don’t have any known risk factors? If so, why?

DH really wants me to get it done, but I’m nervous to do it.

jackie_dunny

@doodleoodle I’m not sure if that is the same as the nuchal translucency test (it’s slightly different to my understand?) but yes, we have no risk factors and we’ve decided to do it. 

I think its mainly because we want to know as much information as we can, and therefore can prepare as much as we can. We’ve both said if we get positive results for Down’s, we’re definitely continuing the pregnancy but we’re not sure what we’d do with Patau’s or Edwards. We’re leaving it as a “cross the bridge if/when we come to it” thing 

freakymagoo

I did mine on Monday, and I got it back today. So maybe it won’t take as long as they say! Sorry this was supposed to be in response to @artsiefartsie

artsiefartsie

@freakymagoo yeah, I'm hoping she just gave me the max time.  I hope your results were good.  

marbellie

@doodleoodle I didn't have any risk factors either and they still offered up the NT ultrasound and screener as if they're standard (they didn't cost us anything). Having gone through a false positive on the screener (which contradicted the great NT scan), now I would either only the NT or the NT and NIPT-we're going with the latter this time around.

On the NT scan they look at the thickness of a fold on the baby's neck as it usually indicates genetic abnormalities, though of course nothing is definitive.

doodleoodle

@marbellie I’m sorry you had to deal with the stress of a false positive. That’s exactly why I’m nervous to do it. It seems like it could cause unnecessary anxiety, especially because my husband would want to terminate most likely. 

RoseShadow873

@doodleoodle I don't have risk factors and have never done NIPT. I have heard of people doing it just to find out the sex early though so I think that's one reason why low-risk people do it.

freakymagoo

All negative! Thanks for asking 🧡

artsiefartsie

@doodleoodle For me, I'm just keeping the mindset that if the fetus has genetic issues, it already has them whether we test or not and I would want to know as soon as possible to mentally prepare, or possibly terminate if it was 100% an issue that wasn't compatible with life. 

But I also totally get not wanting the added stress, it is an extremely personal decision. ❤

kbonita285

I didn't have any of the early screening with my first two (different OB in a different state), but go for an NT scan this Thursday.... my OB made it seem pretty standard so hoping it all goes well!

jenniferjoy37

I’ll be doing mine in a few weeks. Apparently my office doesn’t do them until you hit 12 weeks (I’ve seen between 10-12 before), but meh. Whatever. I’ll follow the rules. Not too nervous about it, but there’s always a risk of something happening, so I’d rather be prepared than not. 

doodleoodle

@RoseShadow873 there was a huge thread on another site about people getting told the wrong sex of the baby via NIPT. So, I hope those people don’t start painting their nursery or anything 😂

sliztee

@doodleoodle I have not had to get either NIPT done, but I am pro-know-absolutely-everything-I-can to prepare myself for any outcome I can. Why are you scared? Because of negative results?

doodleoodle

@slitzee you ready to go absolutely worst case scenario with me? Let me just say, I haven’t been deemed high risk and my doctor’s office has actually told me that they don’t see any reason for me to get it, but DH wants to because he would want to probably terminate. So, worst case scenario- we get a negative result and then have to do amniocentesis to further investigate. The result comes back everything is actually fine, but that procedure caused me to miscarry. Or, the results come back positive for Downs Syndrome and it’s confirmed the baby does have Downs Syndrome... well, I don’t think I would want to terminate, but my husband would. Idk 🤷‍♀️ Maybe I should go to therapy lol

It honestly just seems like a headache. I totally understand why some people opt to do it. I think generally more information is good, but idk... maybe not for me?

jackie_dunny

@doodleoodle if I’m being honest here, if I were in your position, I wouldn’t want to do it either. 

doodleoodle

Love the honesty, Jackie. ❤️

artsiefartsie

@doodleoodle yeah, I agree I think it is totally okay to just not do it, especially if you wouldn't want to terminate. 

My husband had a similar stance as your husband at first but it was coming from a place of ignorance on what down syndrome actually is and once we sat and talked about it all, and I told him down syndrome is not something I would terminate, he felt more equipped to deal and agreed that knowing as early as possible was our best option, just to mentally prepare if it happened. If my NIPT comes back with a higher likelihood of downs then I most likely wouldn't get any additional testing, I'd just wait and see. 

We opted for an extra level of genetic testing for me because of my ancestry I may be a carrier for the tay sachs gene. Tay Sachs is something I would do amniocentesis for, if we both ended up as carriers. Thankfully my husband's ancestry puts him at low risk for carrying it, so I'm not too worried even if I am a carrier.  

doodleoodle

@artsiefartsie that’s great that you were able to come to a resolution. I hope all comes back well for you ❤️

jackie_dunny

@doodleoodle I can’t tell if you’re being sarcastic 😂

sliztee

@doodleoodle I get it. What would your husband’s reaction/life be like if you have a child with Down’s syndrome and didn’t get the NIPT? That might be worth discussing. 

doodleoodle

@jackie_dunny people say that to me in real life pretty frequently, too. Nice to know my personality is translating well 😂

@slitzee well, damn. Thanks lol solid question. 

sliztee

@doodleoodle These are tough conversations, especially when you're already pregnant and emotionally invested. Good luck, babe 

artsiefartsie

Just got the results back! Everything is negative and normal and we are having another boy. ❤❤

MaximumEffort

This pregnancy I am over 35 so I am thinking of getting genetic testing if available.  My nephew was also just diagnosed with participle T4, my gut tells me that it comes from my SIL as all their kids seem to have something abnormal while my 2 and my sisters are fine. 
I still haven't decided and won't have more options until next Friday. 

eggsandwich2019

I got Maternity 21 testing done this time around right at 11 weeks, it took a week to get the results back and they were negative, which was a huge relief. I'm over 35 this pregnancy so it was available as a routine thing for me. Last time I just did the NT and it came back with a heightened risk for Down's so we ended up doing amnio. It was stressful AF. Also we're having another boy as well! 

doodleoodle

cait32 said:

@doodleoodle I'm lurking from October! But just FYI -- if you get high risk on NIPT, you don't have to go immediately to amnio -- you can do a CVS which is diagnostic and can be done sooner so that you can make a decision sooner. While both have some risk, this study says that CVS has no demonstrable impact on the likelihood of miscarriage (given that some pregnancies with major issues will miscarry anyway) https://www.obgproject.com/2019/06/17/do-amniocentesis-or-cvs-really-lead-to-increased-risk-of-miscarriage/

Thank you!!

jenharvey84

I had my NIPT blood test done yesterday and now I wait. I am so impatient. It's driving me mad! I think I need to chill.... 

jackie_dunny

We got our results back today! All very low chances! Wahoo! 

sliztee

jackie_dunny said:

We got our results back today! All very low chances! Wahoo! 

Annnnnd?!

marbellie

sliztee said:

jackie_dunny said:

We got our results back today! All very low chances! Wahoo! 

Annnnnd?!

Right?! I jumped out to check the sex thread lol... I'm saying boy for no reason

jackie_dunny

@sliztee @marbellie the UK doesn’t offer to find out the sex with the screening for some reason 🤷🏻‍♀️ so we have to wait for that  

ETA: but we’re both thinking boy for no reason as well lol 

marbellie

@jackie_dunny that's interesting, was it a test that checked for risk related to all chromosomes or just the typical ones with issues (T13, 18 and 21). My screener that wasn't an NIPT just checked risk level on the 3 and I couldn't find out the sex either because of that

jackie_dunny

@marbellie yeah it was just an NT that tested for the 3! 

jenharvey84

Just had my NIPT results back and low risk! ❤️

marbellie

I had my blood draw this morning for Panorama. I'm so nervous and excited, really can't wait for the results.

marbellie

I'm sitting here still waiting on the results lol 🥲 tomorrow at 11:30am we have our NT scan and first HD view of the baby though. Please send all the best vibes and/or prayers our way!