If you had PGS testing - Q's

BzeetyD · July 2013

If you had PGS testing what kind of screenings are you doing during your pregnancy?

In all my previous PGs I never read any of my books past 8 weeks, so I never looked into all this kind of stuff. Confused I feel out of the loop and also like a bit of an unusual case as most women don't have genetic testing done before the whole show starts.

Our CCS testing is 95% accurate and I was talking to our local RE yesterday and she said that most of the in-utero screenings (here we specifically talked about the blood draw tests and NT scan) are not as accurate as 95%. C.CRM advises that we get a CVS or amnio to be 100% certain, but with our loss history I admit, I'm a bit adverse to that. CCS tests for genetic abnormalities trisomies and monosomies etc... but I think an amino can tell you about spina bifida and other such things that develop in the womb. I talked to her about us having early screenings and if anything showed up, then doing further more intensive investigations. She thought that was a good way to go.

We want to be team green all the way, so there's no sex reveal that we want.

We're in it for the long haul here and of the belief that more information will better prepare us and the hospital should we find out that our baby has any issues.

What did you do? What did your RE suggest? Did your OB team have experience in dealing with PGS testing? I know an MFM does and that they would do most of these test, right?

How does it work when you're getting back your risks for things like Downs?

Thanks.

PurpleIris30 · July 2013

We did PGD but not PGS (or CCS), so a slightly different situation than what you have.

My personal opinion is that an amnio or CVS testing would be a bit extreme (esp. with the risks involved) if you have no other indications. I'd want to have an abnormal ultrasound result or some other risk factors before doing an amnio or CVS.

If you want to have all the information possible, you could still do the NT scan ultrasound at 12 weeks, and if there were further issues, I would probably then do one of the blood tests such as MaterniT21. Or just do the MaterniT21 test. My MFM specialist did say that if the MaterniT21 results came back positive, they would still want to confirm with an amnio or CVS.

For what it's worth, we did not do the formal NT ultrasound (but we were also having very regular ultrasounds almost weekly due to other twin-related issues), but we did do the MaterniT21 test. We opted to go this path because the accuracy of the MaterniT21 test was higher than the NT ultrasound, and we were already getting a lot of ultrasounds anyway (so there wasn't really a benefit to just getting to see the baby). There are a bunch of competing companies similar to MaterniT21, but we did that one, because it was the only one that would test for a multiples pregnancy.

One note if you do opt to go for the blood test such as MaterniT21 is to be sure to tell your doctor and nurse that you do not want to know the sex of your baby. We are also team green, and this wasn't a problem.

Native+Girl · July 2013

I didn't have PGS, but just curious if there are any reasons you suspect you might need a CVS or Amnio if your PGS came back normal. Is it just that last 5% reassurance or you want to screen for as much as possible? I would think the risk of abnormalities would be less than the risk of getting a CVS/amnio so I wouldn't do those unless you've seen something alarming that would justify such invasive screening.

As for whether or not to get the NT scan, I don't think it'll tell you anything you don't already know, but if it's covered by your insurance, it would just be more information to have and give you a chance to see your baby for several minutes.

My MFM did my NT testing, anatomy scan, and all my growth scans. I was told I had a greater than 1:10,000 chance for Down's and the other two (I think) trisomies the NT scan/bloodwork cover.

Good luck with your decision!

BzeetyD · July 2013

Native+Girl:
I didn't have PGS, but just curious if there are any reasons you suspect you might need a CVS or Amnio if your PGS came back normal. Is it just that last 5% reassurance or you want to screen for as much as possible? I would think the risk of abnormalities would be less than the risk of getting a CVS/amnio so I wouldn't do those unless you've seen something alarming that would justify such invasive screening.
As for whether or not to get the NT scan, I don't think it'll tell you anything you don't already know, but if it's covered by your insurance, it would just be more information to have and give you a chance to see your baby for several minutes.
My MFM did my NT testing, anatomy scan, and all my growth scans. I was told I had a greater than 1:10,000 chance for Down's and the other two (I think) trisomies the NT scan/bloodwork cover.
Good luck with your decision!

The only reason is that it was strongly suggested by C.CRM, when we took the CCS "class" even if you had CCS testing, and they are my clinic. Embarrassed I'm kinda a rule follower but wanted to test the waters and see what others did.

I'm not worried about it at all.

Does that make sense?

PurpleIris30 · July 2013

BzeetyD:
Native+Girl:
I didn't have PGS, but just curious if there are any reasons you suspect you might need a CVS or Amnio if your PGS came back normal. Is it just that last 5% reassurance or you want to screen for as much as possible? I would think the risk of abnormalities would be less than the risk of getting a CVS/amnio so I wouldn't do those unless you've seen something alarming that would justify such invasive screening.
As for whether or not to get the NT scan, I don't think it'll tell you anything you don't already know, but if it's covered by your insurance, it would just be more information to have and give you a chance to see your baby for several minutes.
My MFM did my NT testing, anatomy scan, and all my growth scans. I was told I had a greater than 1:10,000 chance for Down's and the other two (I think) trisomies the NT scan/bloodwork cover.
Good luck with your decision!
The only reason is that it was strongly suggested by C.CRM, when we took the CCS "class" even if you had CCS testing, and they are my clinic. I'm kinda a rule follower but wanted to test the waters and see what others did.
I'm not worried about it at all.
Does that make sense?

They are telling you this because they want to make sure that you understand that the PGS testing is not 100%. If you're not worried about the very small percentage chance that there might still be a chromosomal issue, then you don't need to have other testing done.

FWIW, we were told the same thing about amnio and cvs in regards to our PGD testing, and we're not going to confirm results, because for our particular genetic issue there is about the same percent chance of the PGD not being accurate as there is with a miscarriage rate from amnio.

All that said, it doesn't hurt anything to do the NT scan or other blood work, so it really depends on how much information you want. And your decision on whether or not to do the NT ultrasound might depend on how many other ultrasounds you will have through your OB during your pregnancy.

luvboston · July 2013

I would do one of the new fetal DNA tests if I were you they are 99.9 percent accurate and can be done depending on the test starting at 9 weeks. If I was in your position doing an amnio unless they found several markers on u/s seems nuts. When I did pgd they told us to only test further if they saw things on ultrasound. I have had an amnio because we had no choice and that is the only reason I would ever do it again

BzeetyD · July 2013

luvboston:
I would do one of the new fetal DNA tests if I were you they are 99.9 percent accurate and can be done depending on the test starting at 9 weeks. If I was in your position doing an amnio unless they found several markers on u/s seems nuts. When I did pgd they told us to only test further if they saw things on ultrasound. I have had an amnio because we had no choice and that is the only reason I would ever do it again

Thanks, Luv. I agree. That's my plan for now.

Thanks for all the input, ladies. I love having this board as a resource for questions I can't find elsewhere.

golfrgal · July 2013

Glad you asked this question, as I'm not fully clear what further testing is recommended. I did CCS, but it was referred to as PGD. My RE sent me off with a note that although it's 98% accurate, they suggest getting the regular testing by OB (whatever that means).

OB decided that I might as well go for the PAPP-A / NT scan to check the extra 2% and provide peace of mind as well as an anatomy scan. I guess I'll see what happens from there.

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