"High risk" for trisomy 21-- what should I ask/ consider

My first trimester screen results just came back with a 1:50 risk for trisomy 21. My age based risk is 1:396 so this is a pretty big jump in risk based on the test results (1 blood result and the NT thickness were both 95th percentile). I have a consult tomorrow with the doctor to talk about options and I'm trying to make a list of my questions and concerns. My options are to do the new blood test (not sure what the name is but it's the one where they test the maternal blood), CVS, or an amnio. Obviously my concern is balancing risks with information and waiting/worrying. It seems to me that the blood test is not diagnostic so I'm not sure if it's worth going with that. Any advice on questions to ask and issues to consider? I'm sure I'm not thinking 100% clearly.

Update: My M21 blood testing came back clear for all the trisomies. If I were to ever have another pregnancy I think I'd ask about doing the M21 instead of any of the screens. To me an ultrasound looking for structural defects and M21 would have been preferable.

Well, if you would consider terminating then absolutely do the CVS. It gives you more time and it is a less distressing termination because it will be earlier.

If you would not terminate a baby, then the two issues are 1) your mental health; 2) whether you want to know in advance in order to make special plans for health care, delivery, insurance, etc. This is very specific to you! For example, if you would never terminate, are delivery in an acute care delivery center that can handle alot of high-risk, and you are upset about the risk of miscarriage from cvs or amnio, then go with further blood tests . . . these can later be combined with later-stage amnios into another statistical matrix which will give you an even firmer idea. On the other hand, if you need to know to stay calm or feel like it would give your baby a better start health-wise, then go CVS.

If you get a cvs go to a provider who does ALOT of them. For this type of provider, cvs is as safe as amnio. The higher risk of cvs versus amnio appears to derive mainly from some obs who aren't well-trained in it and do it only sporadically.

Last but not least, ASK TO SPEAK TO A GENETIC COUNSELOR! They can help you work through the decisionmaking, some will even set you up with parents to talk to who have a child with the condition.

Good luck OP!!

:hug: being thrown for an unexpected loop is very scary! I second the suggestion of speaking to a genetic counselor. You need to get as much information as you can so you can decide which tests are best in your situation.

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Originally Posted by sste

Last but not least, ASK TO SPEAK TO A GENETIC COUNSELOR! They can help you work through the decisionmaking, some will even set you up with parents to talk to who have a child with the condition.

Good luck OP!!

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:hug: We just went through this with DD2 who was born completely "normal" last month. She had two markers for Trisomy 21, and we elected to just wait and see, since we would non terminate the pregnancy. As sste said, I would ask to speak to a genetic counselor as it will not only help you with decision-making but he/she will also be able to answer any questions you might have in more detail.

Best of luck to you!

I agree with everything that SSTE said. I have heard that Tri 21 markers are often high false positives. I did not have the opportunity to have a CVS test with the Tri-18 baby we had because I didn't have the nuchal fold test. I wasn't even on the radar for having any of these tests because I was under 35, I was 31. After the 17 week u/s the dr. called me and said "oh it's just a tiny focile in the heart, it will be okay. I'll schedule you for a visit with the perinatoligist late on this month." Saw the peri. 4 weeks later:shake:. We did meet with genetic counselor after the peri. visit. It was all a$$ backwards if you ask me. Do as much as you can early on. There are varying levels of Down Syndrome, which as hard as it may be I thought in my case would have been a blessing. Lots of hugs and I'll say some prayers for you, your DH, and your baby.

Quote:

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Originally Posted by sste

Well, if you would consider terminating then absolutely do the CVS. It gives you more time and it is a less distressing termination because it will be earlier.

If you would not terminate a baby, then the two issues are 1) your mental health; 2) whether you want to know in advance in order to make special plans for health care, delivery, insurance, etc. This is very specific to you! For example, if you would never terminate, are delivery in an acute care delivery center that can handle alot of high-risk, and you are upset about the risk of miscarriage from cvs or amnio, then go with further blood tests . . . these can later be combined with later-stage amnios into another statistical matrix which will give you an even firmer idea. On the other hand, if you need to know to stay calm or feel like it would give your baby a better start health-wise, then go CVS.

If you get a cvs go to a provider who does ALOT of them. For this type of provider, cvs is as safe as amnio. The higher risk of cvs versus amnio appears to derive mainly from some obs who aren't well-trained in it and do it only sporadically.

Last but not least, ASK TO SPEAK TO A GENETIC COUNSELOR! They can help you work through the decisionmaking, some will even set you up with parents to talk to who have a child with the condition.

Good luck OP!!

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This. Exactly.

Usually OB's and MFMs are pretty pro-active about scheduling to meet with a genetic counselor in these situations, but if they don't bring it up, make sure to ask about it. As for what tests to consider, it really depends on what you would do with the information. Agree with sste that if you even think termination might remotely be an option, absolutely ask about CVS in detail, and make sure you go to someone who has done a lot.

So sorry you are having to worry about any of this. :hug:

Similar but different, with DD, my 17-18 week quad screen (where they just test your blood for spina bifida, down syndrome, etc.) came back with very high afp levels (alphafetalprotein-or something like that), which can be an indication of open spina bifida. They sent us for a level II ultrasound and were able to rule it out, but decided to watch me more closely from that point on because it can sometimes be a red flag for growth and placenta issues. A month later she had severe growth restriction and I developed severe pre-eclampsia/HELLP, which it turns out on the pre-e forums, a lot of people with severe early onset cases get that "false positive".

So, with that in mind, I would ask if there are any other issues that can come up in pregnancy (growth, etc.) that the test might be picking up on.

Also keep in mind that you should be able to decline the amnio/cvs testing *now*, wait and see how your anatomy scans go later, then if there are soft markers decide what to do. I think that the later you do the amnio, the lower the risk of miscarriage. (I have a friend whose sister had normal screens, but then at the anatomy scan had 3 soft markers for down's syndrome- and they were more obvious issues like dilated kidneys, something with the heart, something with the liver. They did the amnio somewhere between 26-28 weeks and confirmed that their baby did have trisomy 21. The rest of her pregnancy went smoothly and some of the soft markers even went away on their own, and she was able to use the last 2-3 months lining up resources, finding a support group, etc.)

With DS I had an amnio at 36 weeks for lung maturity. It wasn't fun but it wasn't as bad as I imagined (feel free to PM me), at that point, really the only risk of the amnio was that my water might break and it could send me into labor, which they said almost never happens. Sure enough, at 1 am, more than 12 hours later, my water did break. (Though my going home and vacuuming and cleaning like a mad woman might have had something to do with it.) Anyway, if you decide you don't want to terminate but you do want to know definitively, you could always decide to do the amnio between 24-28 weeks based on your ultrasound(s). I think then, like at 36 weeks, the main risk is that your water could break and it could send you into labor, but at least then you are at a "viable" point in pregnancy, and the odds of that happening are really pretty low. (I just happen to fall on the bad side of the odds a lot.)

With my current pregnancy I did CVS testing on twins and an amnio later on one. We found out from the CVS that one likely had Turners syndrome. Since they didn't get a good sample on the other baby they recommended amnios on both 4 weeks later. At that time we found we had lost one of the babies and did an amnio on the other to make sure he was healthy. All of the procedures were tolerable pain wise for me and I am not too good with that stuff. If you would terminate I would try to do the CVS since the earliest they would do the amnios for me was 15 1/2 weeks and then u wait 10-14 days much harder to terminate at that point. My doctor was very skilled and I had no issues from any of the procedures no spotting and minimal discomfort for a day or so. I just rested for 48 hrs after each. Good luck with your decision on what testing to do. My doctor wasn't even concerned about any genetic disorders with the twins, I am 35 though, I pushed for it since it was twins and I needed to know they were healthy and the results were surprising but I am glad I did all of the testing I did. Also for us to even do the testing speaking with a genetic counselor first was part of the process.

I would do the MaterniTY21 test. Non invasive, no risk, and very accurate.

Maybe ask the dr how accurate the tests are, what are the risks of the test. I would find out exactly what they will do for each test. Bring someone with you to write what they say or record it. Odds are you won't be able to digest it all.

Maybe get a second opinion too.