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!
Re: Prenatal testing
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.
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.)
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.
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...
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.
THinking of you. Have you had your NT scan yet? Did they see any markers?
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.
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.
i took my Natera on a Monday. They received my blood on Wednesday. I had the results the following g Tuesday.