Any over 35 moms elect for CVS/Amnio after negative NIPT results?
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Anonymous
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This is one of the PPs who did amnio with microarray. I wanted to add that some labs (I used combimatrix/invitae) have microarrays that are a little more targeted that what you might throw at a case where there are major abnormalities. The targeted prenatal arrays will cut down on the risk of finding a "variant of uncertain significance" aka "vus." The chance that a microarray actually finds something meaningful is higher than the risk of miscarriage associated with the amnio, which is why I did it. This is the main paper that addresses the risk. It's a few years old, so the VUS rate is probably even lower now than it was then. I agree that if your only worry is T21, then you can pass on the amnio, but people seem really in the dark about just how many other things there can be. We still can't test for everything, or even close to it, but I wanted to be as prepared as possible. I didn't want to find out after birth that there was some kind of testing I could have done during pregnancy that would have given me the information and not have done it.
https://www.nejm.org/doi/full/10.1056/nejmoa1203382 |
Anonymous
| Never bothered with any screenings. Went directly to CVS with all three kids. |
Anonymous
I wanted to do the diagnostic testing as early as possible because there were possible outcomes for which I would have terminated the pregnancy. |
Anonymous
| 35 yr old new poster here - if I'm inclined to go right for the diagnostic testing, which would you recommend? CVS or amnio? |
Anonymous
| I was 40 with my first, had negative NIPT screen but was still wracked with anxiety that something might be wrong due to my age (and my anxiety). I wanted to do amnio bc if I recall it tested for more things than CVS did? But I ended up not doing any more testing, and my DS was just fine and is now 3. Good luck, I know all this can be so nerve-wracking! |
Anonymous
| I would recommend amnio over CVS because I feel like placental tissue can be weird sometimes. That being said, I would start with NIPT and a nuchal translucency measurement. If those are normal, I'd wait for amnio. If anything was suspect with those, I'd opt for CVS. I'd recommend meeting with a genetic counselor to discuss all the options. |
Anonymous
| I'm the OP of this thread and I'm now 17 weeks along. my NT scan came back totally normal and both my MFM and OB recommended against CVS/amnio at this point, so I followed their rec. My MFM did say that if anything concerning comes up at the anatomy scan, we could revisit doing an amnio at that point. |
Anonymous
Thanks for the update. Glad you went with what the OB and MFM said (which is what several of us were telling you). |
Anonymous
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Please keep us posted on what happens next - planning for our second and AMA and I am terrified of the worst case of health issues at birth.
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Anonymous
I’m glad you are comfortable with your decision, but just for the sake of education, I’ll repeat it. Microarray trees for more than NIPT and nuchal. If you want to know as much as possible, so that. If you are comfortable being tested for only the three main trisomies, then no need. Obviously most people are having a healthy baby. Hope everything continues to go well and you have a happy, easy pregnancy 
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Anonymous
I was going to write the same thing. NIPT really is very limited screening and only for the most common abnormalities. You already knew this OP so I'm not sure why good results on this and the nuchal turned you away from having diagnostic testing? An amnio combined with a microarray can give you a lot more information on a lot more things not even screened for with the NIPT, really it's a totally different thing and not even comparable. That being said, odds are your baby will be perfect. My point is more your reasoning doesn't make sense. |
Anonymous
NIPT/Nuchal are Screenings. They are in no way diagnostic. Had a friend under 35 have both and both looked good and gave birth to a baby with Down's syndrome. But also they only screen for a couple of things. An amnio can catch much more. I don't understand why people are so afraid of amnios. The risk of a complication from it so absurdly low. And even lower with an extremely experienced doctor. The fear mongering over amnios really needs to stop. I had people tell me "the needle is so huge, it's so painful etc...). The needle is a regular size, the actual test lasts under a minute and the pain was extremely minimal (really not even pain-just weird/uncomfortable). And even with amnio and even with extended microarray you still can't test for EVERYTHING but I wanted to test for everything that I could. |
Anonymous
| 12+1 here and am 36. NIPT came back fine, and will do nuchal translucency test next week. We did IVF with genetic testing, so these screenings are like a double check that everything is fine. If we didn’t have that information, we would do a CVS/amino. |
Anonymous
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I did CVS with all of my pregnancies, and thank goodness, because one of them looked totally normal on the nuchal scan (this was back before Mat21/NIPT was widely avaialble), yet it turned out to be a T21 pregnancy that we terminated. We repeated the CVS too, to be 100% certain.
My trisomy pregnancy was at 38. I did have a healthy baby after that, at 39. The miscarriage risk is very very low, and to me it's a risk I can live with. |
Anonymous
| no |