Prenatal testing

nikkimc8

Okay, can we discuss prenatal testing for a minute? I do pediatric physical therapy which means I work with kids with special needs and developmental delays. Naturally, I'm freaking out that my child will have a disability. I love all my patients, of course, but I do see the impact this has on parents and families and I see their inability to have a "normal" life.

With all that being said, I'm realizing that I know very little about prenatal testing and which ones to get. My fiancé and I have discussed getting the Panorama NIPT at my 12 week visit which will also tell us gender. This test is offered by Natera and they also offer something called Horizon advanced carrier screening? My OB nurse also mention a few test offered at 16 weeks. With this being my first baby I'm a little overwhelmed by the options. So, I wanted to ask what you mommas have done in the past, and what you are considering this time around. Maybe some insights or options I haven't heard. Any advice is greatly appreciated!

And846

Last time i was 33 years old at conception and 34 at delivery. I did the InformaSeq(SM) with XY analysis at 11 weeks gestation. I was low risk due to age but just to have a stress free pregnancy and not have a wandering mind this test was great and did just that - put my mind at ease. It was also considered optional and came with the OOP expense as insurance didn’t pick it up but it was a quick way to meet my deductible for the year. 

This time I’m 37 for conception and delivery and it is required for me by my OB. This time i took the test at 10 weeks and I’m still waiting on the results. I’m obviously more nervous and was thinking worst case but after doing the math of 6K kids born with downs vs 3.6M kids born yearly that is a 0.0016% chance i feel more relaxed that all will be well. I am doing the panorama test and it is covered due to age this time. 

pajamstagrams

I don't remember which company did mine, but I did it at 12 weeks and I'm doing it again this time as well. Yes it's super expensive ($2000+) when they bill insurance, but since my insurance denied it, I just had to pay the self pay fee, which was like $300-400? Bonus because my insurance thought I paid that $2000  OOP so I met my deductible pretty quick😂 

Personally I like knowing and being prepared. For our family, it most likely wouldn't change anything, even knowing there was a high chance for a disability, etc. But I would want to know upfront. Being blindsided would be worse for me. DD had some issues at birth and if somehow we could have known about that before she was born, i would have wanted that (almost a 0% chance it could have detected in utero, but still. Would have been nice to know.)

jandawg

Emily Oster has a pretty comprehensive rundown on prenatal testing in her book "Expecting Better" (disclaimer, I have read and loved all 3 of her books, highly recommend).

I did Panorama for my first pregnancy and paid out of pocket because I was only 30 (it's about $500 in Canada). I'll do the same for this pregnancy (I'm 32 now) because we like having more information. 

fifilala516

**lurking from January 2022**

My husband and I did genetic testing prior to TTC. We also did the NIPT testing at 12 weeks, and it was done through Sema4. I was told by my doctor not to let them charge me more than $250. Sema4 billed my insurance $1650, which was rejected, but they never billed me, so...

pajamstagrams

@fifilala516 don't worry, they'll bill you eventually 😂 I think we got our bill after DD was born lol. 

fifilala516

pajamstagrams said:

@fifilala516 don't worry, they'll bill you eventually 😂 I think we got our bill after DD was born lol. 

Aw crud. Well, they ain't getting more than $250 out of me! LOL.

brookejay06

This is a good topic to discuss. I am also curious what other people are doing. 

My question is this- with the Natera Paranoma test, isn’t it just a screening? So it cannot tell you anything definitively, right? Only if you are high/low risk. 

If you do that and it comes back high risk, then what? Do they do any kind of diagnostic test to confirm?

knowing myself anxious mind, I do NOT want to know any “maybes”. If it can tell me for sure yes or no, then I can prepare. But if it’s a matter of “risk” I will drive myself crazy with possibilities and I would rather not know. 

I do, however, want to know gender as early as possible!!! Haha

Any thoughts ?

nikkimc8

@brookejay06 That's exactly how I feel. I like to be prepared and plan ahead to the best of my ability so I definitely want to know gender and any disabilities as early as possible. However if they just tell me which one's my baby is at risk of I'm going to stress myself out. 

fifilala516

brookejay06 said:

This is a good topic to discuss. I am also curious what other people are doing. 

My question is this- with the Natera Paranoma test, isn’t it just a screening? So it cannot tell you anything definitively, right? Only if you are high/low risk. 

If you do that and it comes back high risk, then what? Do they do any kind of diagnostic test to confirm?

knowing myself anxious mind, I do NOT want to know any “maybes”. If it can tell me for sure yes or no, then I can prepare. But if it’s a matter of “risk” I will drive myself crazy with possibilities and I would rather not know. 

I do, however, want to know gender as early as possible!!! Haha

Any thoughts ?

Correct - NIPT is just a screening, not a diagnostic, so it can only tell you if you are high or low risk for the specific things they screen for. It's my understanding if you come back high risk, you'd be advised to go for CVS testing or an amnio. 

b_1029

I want to do testing, I did NIPT for my last pregnancy…but it ended up being like $500 so I don’t think I’m going to do it this time I did genetic testing when I was working with the RE and I’m not a carrier for anything, so I guess im just gonna keep my fingers crossed this time. 

And846

Okay! NIPT results are in. Natara emailed me this morning that i can view online. My health app pinged 10 min later that they are ready to view. 

My understanding is my DR office got them first to relay info to me if they were bad before Natera would release. I haven’t heard from OB so I’m assuming all is well? 

I called my OB office to have them tell me and they said a MA would open file and call me back. 

I’m not opening email or health app cause i don’t want to know gender yet. 

jandawg

@brookejay06 to add to what @fifilala516 said, the NI in NIPT stands for "non-invasive" - it's a blood test that detects fetal blood cells in your blood, and comes at no risk. CVS and amniocentesis are more invasive procedures that do come with some risks (again, Oster has a great explainer of all this). Also the NIPT are highly effective at predicting (more so I believe than NT scans which was the previous non-invasive standard).

Bababatty

@nikkimc8 I think everyone else has covered the NIPT well (My OB ordered it because I'm 38 and my insurance will cover it for being AMA, even though I did IVF so it wasn't necessary, and just got my results back today -- low risk), but the Horizon screen is different in that it's testing to see if you're a carrier for any genetic conditions you could pass onto your child (I'm fairly certain). It's also just a blood test, and I think it would be recommended for anyone regardless of age. Depending on what your practice wants to do, they may suggest you taking the Horizon screen and then, if you show as being a carrier for anything, have your partner take it to ensure you don't both carry the same things.  

And846

To piggy back…the blood NIPT is more accurate then the NT scan. 

Also… 100% healthy baby!! We will do our own little gender reveal might with DD.

gadzooks_3

I have done NIPT with all my pregnancies and I will with this one.  I am AMA - 42 this time - so higher risk. It is just a screening and if it comes back high risk they likely would recommend CVS or Amniocentesis.  They come with a risk of miscarriage. 35 is the age at which the risk of miscarriage and the risk of genetic abnormality balances out, that is why they recommend any 35+.  If you are medically indicated for NIPT they should also offer you a consult with a genetic counselor.  That is what my OB office does. Even though I have done it twice before they still set me up with an appointment with a genetic counselor on the 20th. They will go over the statistics specific to my and my spouse's age and likely recommend Amnio - which I will decline because I won't risk miscarriage.  Then they will recommend NIPT. 

gadzooks_3

My NIPT results have come back high risk for Trisomy 18 and we are reeling over here.  It's a screening not a diagnosis but it's very likely given my age that it is correct. They are saying 1 in 6 for a false positive.  I am trying to hold onto hope but feeling very upset. 

And846

Oh @gadzooks_3 i can’t imagine what you are going through right now. Will you begin more diagnostic testing? My thoughts are with you. 

kham130

@gadzooks_3 I'm so sorry you have to go through this stress right now. Sending you positive thoughts 💜

brookejay06

@gadzooks_3 thank you for sharing this with us- this news is so so so hard. I am thinking of you in this time of waiting. 

happynapper

@gadzooks_3 thinking of you. Will they have you do a scan? I believe t18 almost always has corresponding ultrasound findings to confirm but I’m unsure how soon they are visible. I’m sorry that there are so many unknowns. 

pajamstagrams

@gadzooks_3 thinking of you ❤️

knottie9da3fcd05fb32531

Having a CVS test next week. Any tips on what to expect and how long your results took?

third2022

@gadzooks_3
THinking of you.  Have you had your NT scan yet?  Did they see any markers?  

jandawg

@gadzooks_3 thinking of you ♥️

b_1029

I’m so sorry @gadzooks_3, I can’t imagine how you are feeling. Thinking of you as you wait for answers. 

gadzooks_3

I got this news yesterday, so we don't have further information yet and we have been allowing ourselves to react.  I was offered a CVS and/or an Amnio but I wasn't ready to schedule it yet. I just kept asking the genetic counselor to slow down because I couldn't focus on what she was saying because I was in shock.  I also told her I couldn't discuss termination right now. 

They have indicated that the likelihood that the screening is correct is 83%. So that is a 17% chance of a false positive (or 1 in 6) which I have been trying to focus on.  I asked if the upcoming Nuchal Scan would give indications and she said if no abnormalities are seen that would be very encouraging for a false positive, but of course the only way to know is through a CVS or Amnio.  I called and got the Nuchal moved up to earliest available based on my due date - so we now go in next week on Wednesday the 3rd. Which feels like an eternity.  Based on what we see there I will consider whether to schedule a CVS or Amnio. She suggested that sometimes the problems seen are so severe people choose to terminate and they can screen afterward which was not helpful and when I told her I wasn't ready to discuss that option.   I am just trying to slow down and move from available data, but maybe on the outside I looked frozen or something? That she just kept talking.

The likely false positive causes are vanishing twin, a maternal tumor, or placental mosaicism.  I never thought I would have a moment where I would hop to have a tumor, SMH.

So I am not inclined toward a CVS which samples the placenta and could have another false positive.  It seems logical to wait for the Amnio, which also has a lower miscarriage risk.  I think she was pushing the CVS because people find it torturous to wait, which it is but I also want accurate information.  I learned from my blighted ovum that more inconclusive information is actually worse than just waiting. I can always change my mind. 

So, for now I am just trying to get through until next Tuesday when I see the OB and hopefully can confirm heartbeat and maybe even continued appropriate growth (🤞🤞🤞 please!) And Wednesday for a good clean looking Nuchal (again, please 🙏)

I know the odds are not good and it might be foolish, but for now I am trying to just hold onto hope.  Today has been hard as the shock has worn off and I am feeling a lot of grief.  I try to remind myself that it is preemptive yet, but my mind is fixated on how big a number 83% is.  I am struggling to feel motivated to take care of myself today.  It's just a very tough day. Maybe tomorrow it will be easier to hope. 

wiscobabies

@gadzooks_3 wow that is a lot to take in, and I can’t imagine how you must be feeling. I’m holding on to hope for you!

MrsLaLaBug

pajamstagrams said:

I don't remember which company did mine, but I did it at 12 weeks and I'm doing it again this time as well. Yes it's super expensive ($2000+) when they bill insurance, but since my insurance denied it, I just had to pay the self pay fee, which was like $300-400? Bonus because my insurance thought I paid that $2000  OOP so I met my deductible pretty quick😂 

Personally I like knowing and being prepared. For our family, it most likely wouldn't change anything, even knowing there was a high chance for a disability, etc. But I would want to know upfront. Being blindsided would be worse for me. DD had some issues at birth and if somehow we could have known about that before she was born, i would have wanted that (almost a 0% chance it could have detected in utero, but still. Would have been nice to know.)

Ohhh shit @pajamstagrams I had no
idea it was that expensive… I wonder if my insurance will deny it. I guess I better warn DH about that before I have mine done on Monday! 😂 I didn’t do it with my other 2 pregnancies but this time doc wants me to because of my age. 

tacosandtums

Hugs as you navigate next steps. Holding on to hope for you and sending strength!

And846

@gadzooks_3 I’m holding out so much hope for you. May the next few days be filled with peace and comfort as you navigate the next steps. 

brookejay06

@gadzooks_3 thanks for sharing your thoughts and feelings with us. The unknown is absolutely torture. I am so sorry you guys are dealing with this. I am, and will continue to, pray for peace and comfort in the waiting and wonderfully good results next week. 

kham130

@gadzooks_3 I appreciate you sharing everything you're going through during this tough time. I'll be holding out hope for you and sending you positive thoughts 

MrsLaLaBug

@gadzooks_3 thinking of you as you navigate through this. 💜

fireflyz_56

So sorry you are going through this @gadzooks_3. Thinking of you and hoping for good results.

Bababatty

@gadzooks_3 I'm just catching up and I'm so sorry that you're going through this! I'm holding out hope and thinking of you and your family. 

brookejay06

Any of you who did Panorama with Natera- how soon did you get results back?

Bababatty

@brookejay06 It took about 10 days for me to get those results.

MrsLaLaBug

@brookejay06 I’m glad you asked this! My panorama is with Natera and scheduled for Monday!! 

And846

@MrsLaLaBug and @brookejay06
i took my Natera on a Monday. They received my blood on Wednesday. I had the results the following g Tuesday. 

brookejay06

@Bababatty @And846 thanks!! This is helpful. I had a friend who did the blood work and got the results within 5 days (she had to call to get the results but they were in when she did) so she’s pushing me to call the clinic and ask (today is day 5)… but they told me it could be 7-10 days so I’m trying to be a chill person and not call. (I’m not chill hahah)