NIPT

momhopeful29

Hi all! I’m wondering what your thoughts or plans are for NIPT testing? My doctor mentioned we can do it in three weeks at my next appointment. I am 29, there are no genetic risk factors that run in my family I’m aware of. Would it still be a good idea? I would rather this than an amniocentesis later. My doctor made it sound like it would be NIPT or that. 

runningyogimama

Absolutely worth it. 

As someone who found out my daughter had T21 last pregnancy due to the NIPT (which is not “just” Down syndrome, but a bunch of medical complications, just like all of the other trisomies) but had a perfect NT scan (so nothing would have been picked up until the anatomy scan, and there were many fetal anomalies present by just 15 weeks when we saw the MFM, so there would have been many present by 20 weeks), I am embarrassed that I didn’t think it was necessary with my prior pregnancy with my son (and it wasn’t out yet with my first two pregnancies). It is 100% worth it, hands down, absolutely, at any price. I was barely 35 with no other risk factors and 3 prior full term, healthy babies - it was an absolute shock when it came back positive, to both us and my doctor. I’ll also say that anyone who says they would “never terminate” and love their baby no matter what so “don’t need to know,” that yes, you’ll love your baby no matter what, but you also can never say you would never terminate for a medical reason until face to face with an awful and/or terminal outcome for your very loved baby (and then, especially in the US right now, it’s a race against time for more testing and timelines because of the awful laws), and most people who have to TFMR also thought they would never. And even if you choose to carry to term no matter what kind of diagnosis, a positive result means it’s now a high risk pregnancy and a bunch of specialists and more testing and monitoring needed, immediately, so the sooner you know there is something wrong, the better.

wanderlustsoul

Definitely worth it. Im an “information is power” person. We do have a questions thread where this could be asked as well and we discourage one-off posts to keep the board organized. If you haven’t yet as well, introduce yourself in the introductions thread. 

bumbly_b23

We have done it both pregnancies now and it’s 100% worth it. 

anniemarie887

@momhopeful29 it's often NT scan OR NIPT with some practices. and amnio would typically be offered if something came back indicating a risk on NT/NIPT. 

litzi-2

100% agree with @runningyogimama and am getting mine on monday. The AFP for NT defects is at 16 weeks i believe if you plan to do the NIPT. You only get amnio if you are at elevated risk, as others said. 

lexyjw

I’m sorry if this is a silly question but this is my first pregnancy (12 weeks!) and I’m wondering if this test hurts at all and what exactly the test process is? Is it just a blood test? 

runningyogimama

@lexyjw Yes, it’s just a normal blood draw! 

daniellesubler

Warning for anyone doing the Natera Panorama NIPT: We got our results back this week the doctor called and said the baby was low risk and asked how we wanted to find out gender so we asked for an envelope so my husband and I could do it privately with a photographer. Opened it last night and it said we were expecting identical twin girls. Neither ultrasound at 7 or 12 weeks showed that so we were in shock. After speaking with my doctors office today they told me there’s a known glitch in the test’s system that automatically puts twins even when it’s not and that our ultrasound doesn’t show more than 1 baby. Yes it’s totally on our doctors office to have not noticed our papers said that before releasing them to us considering they knew it was an issue but just a warning if your office offers that test! Thankful we have a healthy baby girl on the way, but it was an emotional rollercoaster the last 24 hours and I’m a bit traumatized 

cammie0526

@daniellesubler Omg, what in the world?! That should have been caught at so many levels, starting with Natera. Craziness. 

daniellesubler

@cammie0526 right! Every step of the way it’s been excuses so that’s disappointing but it is what it is at this point! I pray it doesn’t happen again to someone else 

songsboutjane

.

anniemarie887

@songsboutjane can you elaborate? Unless I missed something the NT nor NIPT determined if you are a carrier. You’d need to do a carrier screening for that.