Genetic testing (NT scan, NIPT, amnio and beyond)

etnyah

Are you doing genetic testing? Here’s the space for discussing our options for tests, weighing pros and cons for doing them, twiddling our thumbs waiting for results and hopefully getting a whole bunch of “negative”, “normal”, and “unremarkable” findings! 

etnyah

I’m 9 weeks today and just set up my NT scan in three weeks. Besides being AMA I have no reason to suspect anything, I just like to have as much info as possible. 

I’ll also be doing a specialty NIPT called Vistara, which can look for the genetic condition my son has. It’s extremely rare but also very serious. Most likely his case is spontaneous, meaning no future kids will have a higher risk of getting it than the average population, but there’s a small chance he got it from either his dad or me. Both of us tested negative, but one of us could have a mosaic case which is impossible to detect, so I screened my daughter for it when pregnant with her and I’ll do the same now, just to ease my mind. 

midwestkab

Yes, I’ll be getting it done.  I received the kit yesterday and was told not all insurances cover it but I’m “geriatric” at 36 and already got one surprise.  I’m the type that can handle things when I have opportunities to gather info and let it sit for a minute.  

dead82head

I’m scheduled for my NIPT on May 1st. I had three MC last year due to chromosomal abnormalities. I’m hoping that is a good sign… like my body knows to reject if there’s something wrong. Since this is the farthest I’ve made it, I’m hoping no abnormalities are detected and my body is holding on knowing it’s a good one. Does that sound crazy? lol 

etnyah

@dead82head I don't think that sounds crazy at all! Hopefully that means smooth sailing and a healthy baby this time.

mitchip

I chose not get any additional testing done. We did IVF via donor egg and they do a lot of testing prior (and my husband had to get testing each time we chose a donor). 

The donor was 24 and had two healthy babies herself. I feel like these tests would just stress me out more? 

I dunno. I'm already full of anxiety. lol.

etnyah

@mitchip sounds like you're definitely better off not testing!

For me, not knowing fuels my anxiety so it's better for my mental health to do it, even if testing doesn't actually change anything. It's weird how different approaches help different people! I don't think there's any right or wrong way to go about it, just do whatever feels right for you.

ljburrelli

I am so confused on what to do. I’m in my 40’s and this is our 3rd (and also a surprise due to infertility). I am a natural planner and like to know everything but I also feel like knowing may make me more stressed. 

This time around; my anxiety is high all the time. Not sure on what to do but I need to figure it out before my appointment on 4/26. 😫

shakespeareaddictrn

@mitchip I didn’t realize y’all did donor egg IVF too! Our donor is also early 20’s, but like a few here, my anxiety is relieved with information, so we will be doing the testing as soon as we can (8w2d now so still a little way off). We didn’t do PGT testing or anything like that with the embryo, but I think a good NIPT test will go far towards anxiety relief. 

mitchip

Well now I feel like I should get it done!! lol! 

cornichonmam

I'll be having the NIPT test done. The risk is still pretty low but I am conscious that I am older this time.

My younger brother had Cystic Fibrosis so me and DH had genetic testing done long before we had kids. I'm a carrier but DH isn't. So the chances of our children having it now is extremely low. 

etnyah

@mitchip don't give in to peer pressure lol! With the tests already done and the donor being that young, your chances are awesome. I didn't do any testing on my first baby either. But then he ended up having a serious chromosomal condition so now I'm paranoid. Although, standard NIPT wouldn't have detected his disability anyway and there would have been no reason to test for what he has... it's all a crapshoot! But, the vast, vast majority of babies are born perfectly healthy. 

lbonito

I’m definitely curious to hear thoughts on this, but I’m scheduled for NIPT testing this Thursday. My husband and I haven’t done genetic testing ourselves but don’t have reason to worry (I hope) aside from me being 36 and him 42. Very nervous for the results. 

I hear it takes ~a week to get results?

midwestkab

@ibonito same ages for us and that is our main reason to get ours done.  Good luck! My dr. Said weekish too

etnyah

I'm 35 and my husband is 48, so the risk is definitely higher but I'm not too worried. I'm scheduled for the NT scan May 10th, and I'll do the NIPT blood draw Friday next week (I'll be 11w1d). At my clinic they say 8-14 days for results! 

My specialty NIPT that looks for the chromosomal condition my son has is ordered, but I have no idea when they'll receive it and when I'll be able to do the blood draw. Results for that test is 2-3 weeks, ugh. 

ahringbb3

I had my NIPT drawn 4/17.  I’m anxiously waiting for results. ⏰⏰⏰ I had my completed because I am AMA. But I’m also very excited to find out the gender. 

allieowl

Even though we're higher risk (I'm 39, hubby is 36), we decided not to pay $300+ for the nipt. But will do the two blood tests and the nuchal ultrasound is on May 1st.
I think it'll all be okay, but nice to have a heads up if there's any cause for concern. And it's exciting to see our little nugget again! 

mitchip

I'm not scheduled for an ultrasound until 20 weeks and I kind of want to get the testing done just to see our little pierogi lol. 

etnyah

Just did my NIPT blood draw, results in a week or two! NT scan is scheduled for one week from today.

ketchupchips

I’m 22, but they did my tests and ultrasound at 12 w 2 d and the husband got to see the baby for the first time!! Hoping for positive outcomes on Tuesday 🖤

mamahen521

I’m 34 and this is my first pregnancy and I’m on the fence about NIPT. My insurance will only cover it if it is deemed “medically necessary” so I plan to have my Dr send in the preauthorization and see if they ok it or not. I’d like to know about any chromosomal issues and the sex of baby, but I’ve also been very calm and trusting through this pregnancy and am ok not knowing. 

jessicaupstateny

I did NIPT at 10 weeks and the results came back in a week. We did PGT-A testing for our embryo, but knew the test is not a guarantee because they just test a few cells off the outside of the embryo. Also, the test is not as sensitive as people would think, it only flags abnormal results of over 30% of the genetic material from all the cells. In other words, there could have been up to 25% evidence of trisomy and that still would be negative. We were worried about false negatives so the NIPT was nice reassurance for us. 

knottie32a97b28a0abd53c

Hi y’all!! I want to share some REALLY IMPORTANT INFO about the Natera Panorama NIPT test that I wish I knew beforehand. I’m hoping this info will help to keep you at ease instead of panic like I did. 

This is my first pregnancy and I’m 35 yes old. I had my blood drawn for the Panorama test at 12 weeks and was expecting results in 2 weeks. My results came back w/ a 2.6% Fetal Fraction which means there was an insufficient amount of fetal DNA in my blood for the test to yield any results including gender. When the Panorama test shows a low fetal fraction, Natera automatically triggers the fetal fraction based risk (FFBR) algorithm which automatically shows “High Risk” for Triploidy, Trisomy 18 or Trisomy 13. This is NOT the case and there is nothing to panic about, which I learned the hard way. 

The test results can show a low fetal fraction for many reasons (i.e. too early to test in pregnancy, mother’s weight and age, just a bad sample, etc.). 

I panicked because I didn’t understand what these results meant. Was my baby still alive? Was something seriously wrong with my baby? NO!!! These tests sometimes have to be re-administered 2, 3, 4 or 5 times before it yields any results. Also, these tests a commonly known to have false positives so keep that in mind as well. 

If you do get bad results from your test please be sure to have additional tests run, see a “High Risk” specialist doctor, or wait until your full anatomy sonogram. 

I had my blood drawn again for a new Panorama test at 13 weeks & 5 days and should have my results back in 2 weeks. If I get the same results I plan to see a “High Risk” Pregnancy Specialist doctor. Updates to come! 

I hope this info helps!!

etnyah

I've heard of that happening, I don't think it's very common but it happens enough that they should warn people about it! I don't think it's exclusive to Natera Panorama, it can happen with any NIPT. I'm so sorry, that has to be so frustrating (and scary before you realized what was going on)! Hopefully you'll get some good results next time! 

knottie32a97b28a0abd53c

Agreed, it is not exclusive to Natera Panorama. 

Thank you for your well wishes. Fingers crossed! 

etnyah

Had my NT scan today and baby’s fold measured in the normal range. Overall things looked great, baby is actually measuring one whole week ahead! And at one point I saw the little one suck their thumb too, I had no idea they even did that this early. Feeling pretty good about things right now!

allieowl

@etnyah Awwwwwww, that's so sweet! We haven't received the results of ours yet, but it took over an hour for baby to cooperate so we had plenty of time to watch them play around and evade the cameras. Our little one waved at us, it's so precious 🥰

etnyah

Eeee got the NIPT results! Wasn't expecting them until next week! Everything came back normal, huge relief. Aaaand we're having a boy! 

mitchip

Oooo congrats on a healthy baby boy!! 

hippiemama-2

We did the NIPT about 2+ weeks ago and I called today to see if I could get a status update. After being on hold for a while they told me they need to redraw me but can’t do so until mid-next week because there wasn’t enough fetal DNA or something, which puts me at 15 weeks for the redraw. Then it would be another 2 weeks for results putting me at 17 weeks assuming it works this time. I’m super frustrated. I know this happens and isn’t necessarily anyone’s fault but it feels so irritating that they waited until I reached out to share this and then it would be another 3 week wait after the fact to potentially get answers. Debating if it’s even worth it at that point.

etnyah

@hippiemama-2 oh no that’s so incredibly frustrating!! I’m sorry. I can’t believe they didn't let you know until you called them, how long were they sitting on the result? I’d be mad too.

And yeah, at 17 weeks you’re so close to the AS anyway…