NIPT results discussion and questions

bakerstreetboys

Since some of us are at the point where we're getting NIPT tests done, I thought it would be a good idea to have somewhere to discuss the results. It can be a long wait for that call, and I know I definitely had a ton of questions with my last pregnancy.  Are you getting NIPT done?  Do you have your results back yet?

bakerstreetboys

My OB's office just called with the results. I almost threw up when I saw their number come up...I knew that the doctor's voice would be bad news, and his receptionist's voice would be good news.  I'm happy to say that it was his receptionist calling!  Our results came back normal this time, and we're having a little boy.  Now I'm sitting at my desk shaking and crying.  I almost can't believe it.

SpongeWorthy

@bakerstreetboys
Yesss!!!!!!!! I’m so elated for you!!  This was a huge hurdle and I’m so glad you’re past it ❤️❤️❤️

bakerstreetboys

@SpongeWorthy Thank you ❤️ I still can’t quite believe it!

cpk3535

@bakerstreetboys Congratulations!!!!🎉🎊🎈 A baby boy💗💗💗 I’m so excited you got your results and positive news, too!  I’m dying to hear mine! I took my test last Wednesday and nothing yet.  Ack!!

bakerstreetboys

@cpk3535 I had blood taken last Wednesday too and was surprised to get the call today!  What company did you use?

cpk3535

@bakerstreetboys Wow!  No sooner did I post here when I got a message from our office an hour later!  We tested low risk (big phew!!!) and we’re having another girl!!  I had a pretty good feeling it was going to be a girl.  I guess I can somewhat relax now! 

bakerstreetboys

@cpk3535 That's awesome, congratulations!  Hopefully you can breathe a bit easier now

chichiphin

*** dirty lurker *** @bakerstreetboys I am SO SO SO happy for you!!!

midgerose86

I just got blood work done at the lab today. In California you do a NT after 10 weeks, followed by an ultrasound after 11 weeks 4 days — and they generally give you the lab results during the ultrasound appt, so we probably won't know anything until then (May 30th). Wish we could find things out sooner!

We also opted for the cell-free DNA test, which is known to be more accurate, because my partner is older (50) which puts us at slightly more risk I guess. I thought we could JUST do the cell-free, but my OB recommended we get everything so that we can cross-reference...

midgeroseftm

Update: the cell-free test came back negative/low-risk! We are team green so I had to do everything in my power not to click the “find out the sex” button...aaaaaaaaaaaaaah!!!

anniemarie887

@midgeroseftm congrats! I go do the bloodwork and meet w/the genetic counselor tomorrow. can I ask which company you used? I've heard stories of people who were team green being spoiled by NIPT

knottie63cd7c3ff23da8e0

@midgeroseftm congrats! Thats a relief. I did my bloodwork yesterday, no waiting to hear hopefully by next week. We are also thinking to do cell free DNA, but want to be team green. 

midgeroseftm

@anniemarie887 we used Myriad because that’s what my OB uses...they are really good about making it clear when you’re risking a reveal. You get the basics of the results online and then it says clearly to click if you want to know the sex, and that if you download the full report it will also tell you the sex. They also have you schedule a call with their genetic counselors to go through the results in detail, and mine was very mindful of our preferences. No spoilers!

blueskychicago12

@anniemarie887 when the genetic counselor called me to go over my results, she confirmed several times that I wanted to know the sex before she revealed it.  When she emailed me the results, however, that info was printed on the report in big bold letters.  Possibly if I hadn't wanted to know she could have left that off, but I'm not sure.

anniemarie887

@blueskychicago12 which company was yours through? I just did the paperwork and blood this morning with Natera Panorama test. She specifically indicated NO SEX on the paperwork - but I’m still nervous. It seems like I’ll actually have access to the results before a call from
them to go over. 

blueskychicago12

@anniemarie887 mine was through MaterniT21/Sequonem.  It seems like all of the companies are sensitive to the fact that many people do not want to know, so since you were clear about it, I would guess that they will be sure not to spoil it for you!

anniemarie887

FYI - for anyone with a high deductible plan that was put off by the price of Natera Panorama they have a “self pay” option. 

veganelise

My results are in, but I can't go in until tomorrow. My midwife's voicemail was cheerful so I'm hoping all is well. We'll have the gender envelope tomorrow, too. Crazy!

LM1007

Got my results yesterday afternoon, everything came back looking good and healthy. 
And I'll be having another boy! 3 for 3!

boymom3ohio

I with ya! 3rd boy! 

knottie63cd7c3ff23da8e0

Got my results yesterday, everything came out safe and healthy. I was thinking to wait for the gender reveal till the anatomy scan, but hubby could not resist... so clicked the link... and we are having a boy... 

bookworm492

knottie63cd7c3ff23da8e0 said:

Got my results yesterday, everything came out safe and healthy. I was thinking to wait for the gender reveal till the anatomy scan, but hubby could not resist... so clicked the link... and we are having a boy... 

Congrats! I had my test tonight and I was told I will know in about a week. 

veganelise

Everything came back low risk, and... we're having a boy. We were both hoping for a girl, but it's boy time! Ferris Moon, we'll see you in December ♥

rainbowmama24

Hi moms, did my NT scan yesterday and it was measuring high at average 5mm. I was devastated when doctor started telling me about what could be wrong with my baby.. baby was measuring right at 11w4d, moving so quickly and I had to hear the possibility of abnormalities with my baby. Took my blood for NIPT and I know it’s going to be a long two weeks. Anyone had similar issue and had gone on to have healthy babies? I’ve been through a miscarriage and a chemical so this is killing me. 

anniemarie887

@rainbowmama24 we just had friends go through this (they had a perfect baby in April). Did the genetics counselor go over the false positive rate on the NT scan? It’s 4% @ age 30, and gets higher with age. Keep us posted, hoping all is well for you. 

nsquaredlife13

I feel dumb asking this considering this is my 3rd baby... but is the NIPT the same as the Nuchal Translucency Test? When we lived in California, my midwife always referred to it as the Nuchal Translucency screening which they did between weeks 11-13. They only did further screening and an amniocentesis if the NT scan showed anomalies. But here in Texas, they are calling it the Non Invasive Prenatal Test. I didn't even realize the different terms until this morning when I read this thread and now I'm sitting here wondering what I'm even doing at my next appointment. 

ETA: changed pregnancy to prenatal because I can't brain this morning

blueskychicago12

@nsquaredlife13 As I understand it, the term NIPT is often used synonymously with the cell-free DNA blood test.  I had this in addition to the nuchal translucency ultrasound.  I'm 37, so I'm not sure if the combo is commonly used for younger women.  For me, they were two separate appointments - one around 10 weeks to consult with the genetics counselor and draw blood for the DNA test (I got a call with results 6 days later) and then the NT ultrasound at my 12 week appointment.

nsquaredlife13

@blueskychicago12 thank you!! I'm going to call tomorrow to confirm what my next appointment is because I now have no idea what I'm doing. On their online scheduler it shows an ultrasound and a check up with my OB/MW -- I'll be 12w 3d at that appt. At my last appointment, she referred to it as NIPT but then also mentioned a blood screening that I may or may not be eligible for insurance coverage since I'm under 35. I think I was just so excited to have had a positive ultrasound that I didn't really process what she was saying. Guess the 3rd time doesn't mean you know it all right? 

rainbowmama24

anniemarie887 said:

@rainbowmama24 we just had friends go through this (they had a perfect baby in April). Did the genetics counselor go over the false positive rate on the NT scan? It’s 4% @ age 30, and gets higher with age. Keep us posted, hoping all is well for you. 

my gynae did the NT scan and only mentioned that 5mm is very unusual, the last she’s seen this thick was a few years ago thank you for sharing about your friends! That gives me hope ♡ 

anniemarie887

@nsquaredlife13 if your practice offers Natera Panorama I posted the self pay option above if your insurance doesn’t cover NIPT. I chose NIPT because it’s more accurate and the false positive is significantly less. And you can do it at 10 wks. The NT is exactly what you described: sonogram and they do take blood to look at I believe 2 hormone levels they use as indicators at 12 wks. If you show a risk on NT the next step is NIPT at my practice, so I was like ehhhh I’ll just skip to NIPT. 

@rainbowmama24 has your OB gone over what next steps? My friends then did NIPT which came back fine! Still a very scary 7-10 days for them. 

nsquaredlife13

@anniemarie887 thank you so much!!! This entire pregnancy is going to be super cheap with our new insurance (like $200 for everything including delivery and newborn well checks), so I don't mind if we have to pay a little OOP for something like the screening. I'm going to call our insurance tomorrow to see what is covered and then call my OB to get it all sorted out. My appointment isn't for another 2ish weeks. I'll keep the self-pay option in mind for that!   

rainbowmama24

@anniemarie887 we did bloodwork to be sent for NIPT, results only out next Friday nothing we can do but pray! I was googling on whether vaginal progesterone would increase NT and looks like it does, I was prescribed Utrogestan due to my past miscarriage history so I’m thinking if that might be the cause. Only stopped taking last Friday since we saw that the placenta has been formed.

midgeroseftm

@rainbowmama24 I don’t have a story to share, but will only echo that the NIPT is much more accurate than the NT (and actually looks at DNA!) so I’m glad you’ll be getting better info soon. Keeping my fingers crossed for good news!!

rainbowmama24

@midgeroseftm thank you dear! Hope i can update with some good news next week! 

anniemarie887

@nsquaredlife13 that's amazing with your insurance! can we trade? I've spent more than that one 2 OB appts and labwork!

@rainbowmama24 keep us posted!

as for me, genetics counselor called about an hour ago, all low risk on NIPT and looking good for baby (and they left gender off!). I must've been harboring some nerves I didn't even realize, because about 20 mins later I puked in my desk trash can.

Spartanrd4

So I had my NT scan today and the NT measurement was good- 1.1 mm and I had the NIPT drawn. I did the carrier screen for cystic fibrosis my first pregnancy and this time around they offered me a screen for SMA (spinal muscular atrophy)- I guess Caucasians have a 1 in 35 risk of being carrier regardless of age. If you test positive for being a carrier and your husband is also a carrier then the baby has a 25% chance of being affected. Has anyone done this screen? I told them I would think about it- just curious because I have never heard of anyone else doing this test before. 

anniemarie887

@spartdanrd4 we were offered the same (Panorama Horizon test?) and decided to skip. (We’ve also done other carrier screening and everything was negative.)

I think this is a hot button subject considering Novartis just got their $2 million dollar drug for SMA FDA approved, and it’s the most expensive drug in history. 

Edit: spelling/grammar 

bookworm492

I'm awaiting my nipt results and getting really nervous. They said it'll take a week,  and I had the blood drawn Thursday night. 

blueskychicago12

@Spartanrd4, I opted to do a carrier screen.  I believe it scanned for over 100 genetic disorders.  I figured why not since my insurance covered it and I also figured if there was a risk of one of the conditions, I'd like to know as early as possible to be well prepared.  I came back as a carrier for only one condition and was told that it is something easily treatable after birth, so we opted not to bother with a carrier screen for my husband.  It gave me some extra peace of mind.

midgeroseftm

@Spartanrd4 my doc didn’t even mention she was doing the SMA carrier screening (or maybe she did but I missed it)...it just showed up with all of her other lab requests. I think it has become pretty standard because it’s relatively common and a very serious condition. Annoyingly we’ve gotten all of our OTHER results back, but still waiting on this one more than 2 weeks later...