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Maternal Serum Test Came Back as "Slightly Higher Risk"
Greetings All, my wife and I are in our 18th week and we just got back
the results of our Maternal Serum Test. The doc says we have a slightly higher risk than normal for downs, 1/129 to be exact. First off we conceived via IVF (third attempt was the charm) and we had PDG on the embryos (8 went out for testing 6 came back bad, two good and they were transferred). The two embryos that came back were supposedly genetically perfect, no indicator of trisomy 21 or any other abnormality for that matter. So now we are terrified not knowing what it going on with our little bundle of joy. What are the odds that PGD would miss trisomy 21 and then having the embryo implant? We are in the process of scheduling a level II ultrasound and I guess from there we have the option of amnio if that test comes back demonstrating one or more markers. I have been doing a bunch of reading and it seems that the tri-test in far from perfect and that there are many reasons why any of the three tests would come back out of the expected range. It should be noted that they were only supposed to test the AFP (protein) and they goofed up and tested the other two items (hcg, estrosis?) as well. My wife was also doing a glucose test that day as well. I understand that we won't know until we have further testing but I guess that I am just looking for some uplifting stories that will at least make me feel that the maternal serum test is simply wrong and the PGD testing was right. |
#2
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Maternal Serum Test Came Back as "Slightly Higher Risk"
LineVoltageHalogen wrote:
Greetings All, my wife and I are in our 18th week and we just got back the results of our Maternal Serum Test. The doc says we have a slightly higher risk than normal for downs, 1/129 to be exact. First off we conceived via IVF (third attempt was the charm) and we had PDG on the embryos (8 went out for testing 6 came back bad, two good and they were transferred). The two embryos that came back were supposedly genetically perfect, no indicator of trisomy 21 or any other abnormality for that matter. So now we are terrified not knowing what it going on with our little bundle of joy. What are the odds that PGD would miss trisomy 21 and then having the embryo implant? We are in the process of scheduling a level II ultrasound and I guess from there we have the option of amnio if that test comes back demonstrating one or more markers. I have been doing a bunch of reading and it seems that the tri-test in far from perfect and that there are many reasons why any of the three tests would come back out of the expected range. It should be noted that they were only supposed to test the AFP (protein) and they goofed up and tested the other two items (hcg, estrosis?) as well. My wife was also doing a glucose test that day as well. I understand that we won't know until we have further testing but I guess that I am just looking for some uplifting stories that will at least make me feel that the maternal serum test is simply wrong and the PGD testing was right. The PGD testing is more specific than the triple screen. It's not so much that the triple screen isn't perfect as it is that the triple screen is designed to be just that-- a *screening* test. It simply identifies a pool of candidates for further testing. A substantial majority of those who have a postive screen have perfectly normal babies. The goal of the test isn't to identify babies with trisomy 21. The goal is to eliminate those who are very unlikely to have trisomy 21 (who therefore won't benefit as much from invasive testing that poses a risk to the pregnancy), but the price of that is that many women with perfectly healthy babies end up in the higher risk pool for further screening. Even without the PGD testing, the odds would be very much in your favor. Even the results returned say that you have a better than 99 percent chance of having a baby without Downs Syndrome. Add in the PGD, and odds are extremely good that the baby does not have Downs Syndrome. Best wishes, Ericka |
#3
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Maternal Serum Test Came Back as "Slightly Higher Risk"
Thanks for your input Ericka. My wife and I are just so worried over
this. We have been trying to get preggers for just about 4 years now and when we finally get pregnant we thought the rest was going to be easy! My mother must be right when she says ".. once you're a parent you never ever stop worrying .." |
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Maternal Serum Test Came Back as "Slightly Higher Risk"
Congratulations to you and your wife on the pregnancy.
Ericka has got all the info - she's good like that. I would just like to add that your baby has a 128 out of 129 chance of not having Downs Those are pretty good odds. All the best Camille |
#5
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Maternal Serum Test Came Back as "Slightly Higher Risk"
Thanks for your words of hope Camille.
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#6
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Maternal Serum Test Came Back as "Slightly Higher Risk"
LineVoltageHalogen wrote:
Thanks for your input Ericka. My wife and I are just so worried over this. We have been trying to get preggers for just about 4 years now and when we finally get pregnant we thought the rest was going to be easy! My mother must be right when she says ".. once you're a parent you never ever stop worrying .." So very true--and alas, the worries tend to get *worse* once they're out, not better! But a lot of it is keeping perspective, and a better than 99 percent chance your baby does not have DS is pretty darned good. Best wishes, Ericka |
#7
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Maternal Serum Test Came Back as "Slightly Higher Risk"
Thanks Ericka. We are now waiting on our date and time for teh level
II ultrasound. We are going to Brighams and Women's hospital in Boston which makes me feel better. They are supposedly one of the best facilities on the planet for this sort of thing. I eagerly await the Dr's conclusion that all is normal and we have nothing to worry about |
#8
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Maternal Serum Test Came Back as "Slightly Higher Risk"
LineVoltageHalogen wrote:
Thanks Ericka. We are now waiting on our date and time for teh level II ultrasound. We are going to Brighams and Women's hospital in Boston which makes me feel better. They are supposedly one of the best facilities on the planet for this sort of thing. I eagerly await the Dr's conclusion that all is normal and we have nothing to worry about Adjust your expectations now. They're *never* going to tell you there's nothing to worry about, and even with experienced technicians, ultrasound is not a crystal ball. You're not going to have that ultrasound and walk out with the weight completely lifted off your shoulders, and if you expect that, you'll feel even *worse* when it doesn't happen. *If* the baby is cooperative (and some aren't), you'll likely get a result that will not show any soft markers and they'll likely give you an adjusted risk for DS that is lower (but non-zero). Or, they might find an isolated soft marker. Or, they might find something else funny. Or the baby might not get into an optimal position and there might be things they can't visualize and measure as well as they'd like, so they won't be able to rule everything out. It is not uncommon for spurious things to show up. If you understand that none of this is perfect, you can accept the results for what they are and realize that you don't really have any reason to have an elevated level of concern. If you expect everything to be perfect and to get an absolutely clean bill of heath, then there are decent odds that you'll be *really* stressed out after the u/s. Also, take some time to consider before you go in what you might do based on the results, or at least formulate the questions you'd want answered in order to make decisions. For example, what would you do if they couldn't see some things well enough but didn't have any indication of problems? Schedule another u/s? Figure it was good enough? What would you do if there was an isolated soft marker for DS? Would you go for the amnio, even though it does introduce a risk? If the amnio came back positive for DS, would you terminate the pregnancy? If not, is the amnio worth the risk in order to get the definitive information, considering that the PGD testing presumably already tested those chromosomes directly? There's no easy answer to these questions. They all depend on your personal values. But I think it's helpful to sit down and work through the issues in the abstract so that you're a bit more prepared to react to whatever happens with the u/s. Odds are still very, very high that your baby is just fine; however, there is a possibility that the u/s may have somewhat equivocal results even if the baby is fine, and recognizing that possibility can save you some anxious times, and also save you from making decisions before you've had a chance to think your way through them. Best wishes, Ericka |
#9
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Maternal Serum Test Came Back as "Slightly Higher Risk"
Hi there!
I've been in your boat! I am 34, and my maternal serum test came back with a slightly elevated risk for Downs as well. At first we didn't know what the heck 'slightly elevated' was supposed to mean, they didn't give us any hard numbers to go by. But like you, we were scheduled for a level II u/s to look for soft markers, with the option of amnio if those markers did show up. Scary! The u/s provided far more reassurance than terror. They didn't find any soft markers, so that reduced our risk. However, they did find a cyst in the baby's brain. It was stressed to us that this is not unusual, it *can* be a soft marker for another abnormality, but might not be, lots of perfectly normal babies have these too. So we were told to come back for another u/s a few weeks later to look again, and they would compare measurements to the first time and see if the cyst was still there. Always something to worry about with this pregnancy business! In the end the cyst was still there, but everything looked great. We were reassured by our medical professionals that everything seemed normal, and that a large part of my risk was age-related. We opted against going for the amnio, and we're showing every sign of having a perfectly healthy baby. I'm just about at week 29, being pummelled all the time, and loving every minute of it. The odds say that your baby is perfectly fine and healthy. I know it's difficult, but don't let the docs scare the bejesus out of you with the numbers game. Even your 'elevated' risk is still REALLY low! Good luck! KD |
#10
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Maternal Serum Test Came Back as "Slightly Higher Risk"
Ericka Kammerer writes:
So very true--and alas, the worries tend to get *worse* once they're out, not better! Yeah, what's up with that? I asked my mom if I'd start worrying less at some point, and she said "Sure you will. In about 30 years." Liz, who has lots of grey hair now. ;-) |
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