questions about genetic counseling/nuchal/CVS/amnio

questions about genetic counseling/nuchal/CVS/amnio

BroodyHen
BroodyHen

July 9th, 2012, 9:01 pm #1

hi everyone.
i just confirmed my bean is still holding on in there - 8wk scan found the heartbeat again and still measuring on track. what a relief! so now i'm moving to the next step - genetic testing. when i was pregnant with DS 4 years ago, it was a total no-brainer for me - i wanted a CVS to know definitively and early if i had a genetically normal baby. it all worked out, so i assumed i would do go with the same plan again if i were lucky enough to get pregnant again. well, fast forward 4 years and 3 MCs and discovery of antiphospholipid syndrome (autoimmune clotting disease) etc etc etc and things have changed. the b.eer center, my RI, advises against CVS as immune patients are at a greater risk of having the procedure induce miscarriage. at this point, i don't feel there is any way i can risk this pregnancy by having a CVS, even though the old me swore there was no way i'd ever not get one! there are new prenatal blood tests (materniT21 by sequenom is one of them, and there are a couple others) that can get fetal DNA from a maternal blood sample and test for the 3 trisomies. that test can be done at 10 weeks with results in about 2 weeks. i am so grateful for this option and am scheduled for the test. but there are A LOT of other problems that a CVS or amnio test for that aren't covered by the new blood test. then there is the nuchal test. it seems that a lot of you take great comfort from your nuchal results. but i know there are a lot of false positives (in both the soft markers and the blood work) and i don't want to be unnecessarily stressed. i think there is less risk for immune patients with an amnio, but there are still risks, of course and it just seems so awful to find out so late if there is a devastating problem. i also think a lot can be seen at the 20 week anatomy scan, but again such a very long time to wait. i know there are no guarantees but i'm just trying to think through the options and figure out how to best get the most information as early as possible. i know this is such a hugely personal thing, but i am very interested in how others process the need/desire for definitive answers against the risks of invasive testing. i have my appointment with the genetic counselor this week, which maybe will give me some more insight. but as per usual, i'm more interested in your thoughts if you're willing to share. thank you so much!
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Erin
Erin

July 9th, 2012, 10:58 pm #2

As you said, I think it's a really personal decision, but I decided to go ahead with the NT scan only b/c the fetal DNA testing is available. I know it doesn't test for everything but I'm comfortable with that, and besides, I went through a lot of genetic testing before I even went through IVF, so much has already been ruled out. I think insurance will cover it (my clinic thinks it will anyways) but even though I don't have 2 pennies to rub together right now, I would pay for it out of pocket or forgo further testing altogether over having an amnio. For me, after all I went through to get pg, the 1 in 200 or 1 in 600 (depending on who you believe) chance of m/c with amnio is WAY too high for me to take that risk. Honestly, I'm doing the NT scan as much to get a detailed look at the little guy and see that s/he appears to be continuing to develop normally as I am for the measurement, maybe even more actually. But that is just the way I feel. Everyone has their own viewpoint, and that's just mine. We'll see how I feel after I actually have the scan on Thursday! Good luck to you, whatever you decide!
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cbsgirl
cbsgirl

July 10th, 2012, 12:58 am #3

hi everyone.
i just confirmed my bean is still holding on in there - 8wk scan found the heartbeat again and still measuring on track. what a relief! so now i'm moving to the next step - genetic testing. when i was pregnant with DS 4 years ago, it was a total no-brainer for me - i wanted a CVS to know definitively and early if i had a genetically normal baby. it all worked out, so i assumed i would do go with the same plan again if i were lucky enough to get pregnant again. well, fast forward 4 years and 3 MCs and discovery of antiphospholipid syndrome (autoimmune clotting disease) etc etc etc and things have changed. the b.eer center, my RI, advises against CVS as immune patients are at a greater risk of having the procedure induce miscarriage. at this point, i don't feel there is any way i can risk this pregnancy by having a CVS, even though the old me swore there was no way i'd ever not get one! there are new prenatal blood tests (materniT21 by sequenom is one of them, and there are a couple others) that can get fetal DNA from a maternal blood sample and test for the 3 trisomies. that test can be done at 10 weeks with results in about 2 weeks. i am so grateful for this option and am scheduled for the test. but there are A LOT of other problems that a CVS or amnio test for that aren't covered by the new blood test. then there is the nuchal test. it seems that a lot of you take great comfort from your nuchal results. but i know there are a lot of false positives (in both the soft markers and the blood work) and i don't want to be unnecessarily stressed. i think there is less risk for immune patients with an amnio, but there are still risks, of course and it just seems so awful to find out so late if there is a devastating problem. i also think a lot can be seen at the 20 week anatomy scan, but again such a very long time to wait. i know there are no guarantees but i'm just trying to think through the options and figure out how to best get the most information as early as possible. i know this is such a hugely personal thing, but i am very interested in how others process the need/desire for definitive answers against the risks of invasive testing. i have my appointment with the genetic counselor this week, which maybe will give me some more insight. but as per usual, i'm more interested in your thoughts if you're willing to share. thank you so much!
I was 43.3 when I got pregnant with DS naturally last summer. After all that I had gone through to have him, I couldn't risk losing him to invasive testing. I felt like this child was meant to be and kind of tried to let go a bit and believe all would turn out ok. I also relied on the NT results to determine my next steps. If my results had shown odds of a problem greater than the risk of m/c for amnio, then I would have gone forward with amnio. (I was advised by an OB friend to find a doc who does early amnio (some will do them at 14-15 weeks) in lieu of CVS). I opted out of amnio based on my results and waited for the 20 week scan to breath easier. All turned out well - fortunately! Good luck. It is so hard making these decisions.
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Laura
Laura

July 10th, 2012, 4:35 am #4

hi everyone.
i just confirmed my bean is still holding on in there - 8wk scan found the heartbeat again and still measuring on track. what a relief! so now i'm moving to the next step - genetic testing. when i was pregnant with DS 4 years ago, it was a total no-brainer for me - i wanted a CVS to know definitively and early if i had a genetically normal baby. it all worked out, so i assumed i would do go with the same plan again if i were lucky enough to get pregnant again. well, fast forward 4 years and 3 MCs and discovery of antiphospholipid syndrome (autoimmune clotting disease) etc etc etc and things have changed. the b.eer center, my RI, advises against CVS as immune patients are at a greater risk of having the procedure induce miscarriage. at this point, i don't feel there is any way i can risk this pregnancy by having a CVS, even though the old me swore there was no way i'd ever not get one! there are new prenatal blood tests (materniT21 by sequenom is one of them, and there are a couple others) that can get fetal DNA from a maternal blood sample and test for the 3 trisomies. that test can be done at 10 weeks with results in about 2 weeks. i am so grateful for this option and am scheduled for the test. but there are A LOT of other problems that a CVS or amnio test for that aren't covered by the new blood test. then there is the nuchal test. it seems that a lot of you take great comfort from your nuchal results. but i know there are a lot of false positives (in both the soft markers and the blood work) and i don't want to be unnecessarily stressed. i think there is less risk for immune patients with an amnio, but there are still risks, of course and it just seems so awful to find out so late if there is a devastating problem. i also think a lot can be seen at the 20 week anatomy scan, but again such a very long time to wait. i know there are no guarantees but i'm just trying to think through the options and figure out how to best get the most information as early as possible. i know this is such a hugely personal thing, but i am very interested in how others process the need/desire for definitive answers against the risks of invasive testing. i have my appointment with the genetic counselor this week, which maybe will give me some more insight. but as per usual, i'm more interested in your thoughts if you're willing to share. thank you so much!
This was what DH and I decided with #1: if the blood/NT show increased risk of chromosomal disorder, then that's enough info for us to prepare for a SN child. We knew we would keep our DS no matter what so there was really no point in risking mc (I've also researched and found the shocking stat of 1/200 rate of fetal death, not including any other complications). 20 wk is still a lot of time to prepare if the nt scan is inconclusive.
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Tanya
Tanya

July 10th, 2012, 1:06 pm #5

hi everyone.
i just confirmed my bean is still holding on in there - 8wk scan found the heartbeat again and still measuring on track. what a relief! so now i'm moving to the next step - genetic testing. when i was pregnant with DS 4 years ago, it was a total no-brainer for me - i wanted a CVS to know definitively and early if i had a genetically normal baby. it all worked out, so i assumed i would do go with the same plan again if i were lucky enough to get pregnant again. well, fast forward 4 years and 3 MCs and discovery of antiphospholipid syndrome (autoimmune clotting disease) etc etc etc and things have changed. the b.eer center, my RI, advises against CVS as immune patients are at a greater risk of having the procedure induce miscarriage. at this point, i don't feel there is any way i can risk this pregnancy by having a CVS, even though the old me swore there was no way i'd ever not get one! there are new prenatal blood tests (materniT21 by sequenom is one of them, and there are a couple others) that can get fetal DNA from a maternal blood sample and test for the 3 trisomies. that test can be done at 10 weeks with results in about 2 weeks. i am so grateful for this option and am scheduled for the test. but there are A LOT of other problems that a CVS or amnio test for that aren't covered by the new blood test. then there is the nuchal test. it seems that a lot of you take great comfort from your nuchal results. but i know there are a lot of false positives (in both the soft markers and the blood work) and i don't want to be unnecessarily stressed. i think there is less risk for immune patients with an amnio, but there are still risks, of course and it just seems so awful to find out so late if there is a devastating problem. i also think a lot can be seen at the 20 week anatomy scan, but again such a very long time to wait. i know there are no guarantees but i'm just trying to think through the options and figure out how to best get the most information as early as possible. i know this is such a hugely personal thing, but i am very interested in how others process the need/desire for definitive answers against the risks of invasive testing. i have my appointment with the genetic counselor this week, which maybe will give me some more insight. but as per usual, i'm more interested in your thoughts if you're willing to share. thank you so much!
I also agonized over whether to do a CVS for my miracle pregnancy. We did the first screening and based on those results we were torn whether to do the CVS. It was 1:65 for DS and 1:35 for Trisomy 18. Also, the NT fold was 2.7 and while they say anything under 3 is normal, they said this was a generous fold.
In the end, I knew I couldnt rest until I knew what was going on so I did the CVS.
I was still a patient of Dr. Checks and spoke to his nurse and he had had me start PIO the day before the procedure and continue for a week, he believes it calms the uterus. I cant say whether that worked but thank God, I didnt suffer any complications and now have a beautiful 5 ½ month old healthy boy.

I remember researching how very important it is to find a doctor with good stats and to ask what THEIR M/C rate was.
Here is the link to my post :http://www.network54.com/Forum/264844/t ... +with+CVS-

I know what a very difficult decision this is. If I can answer any other questions or help, let me know.
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Cheryl
Cheryl

July 10th, 2012, 7:50 pm #6

hi everyone.
i just confirmed my bean is still holding on in there - 8wk scan found the heartbeat again and still measuring on track. what a relief! so now i'm moving to the next step - genetic testing. when i was pregnant with DS 4 years ago, it was a total no-brainer for me - i wanted a CVS to know definitively and early if i had a genetically normal baby. it all worked out, so i assumed i would do go with the same plan again if i were lucky enough to get pregnant again. well, fast forward 4 years and 3 MCs and discovery of antiphospholipid syndrome (autoimmune clotting disease) etc etc etc and things have changed. the b.eer center, my RI, advises against CVS as immune patients are at a greater risk of having the procedure induce miscarriage. at this point, i don't feel there is any way i can risk this pregnancy by having a CVS, even though the old me swore there was no way i'd ever not get one! there are new prenatal blood tests (materniT21 by sequenom is one of them, and there are a couple others) that can get fetal DNA from a maternal blood sample and test for the 3 trisomies. that test can be done at 10 weeks with results in about 2 weeks. i am so grateful for this option and am scheduled for the test. but there are A LOT of other problems that a CVS or amnio test for that aren't covered by the new blood test. then there is the nuchal test. it seems that a lot of you take great comfort from your nuchal results. but i know there are a lot of false positives (in both the soft markers and the blood work) and i don't want to be unnecessarily stressed. i think there is less risk for immune patients with an amnio, but there are still risks, of course and it just seems so awful to find out so late if there is a devastating problem. i also think a lot can be seen at the 20 week anatomy scan, but again such a very long time to wait. i know there are no guarantees but i'm just trying to think through the options and figure out how to best get the most information as early as possible. i know this is such a hugely personal thing, but i am very interested in how others process the need/desire for definitive answers against the risks of invasive testing. i have my appointment with the genetic counselor this week, which maybe will give me some more insight. but as per usual, i'm more interested in your thoughts if you're willing to share. thank you so much!
This is such a personal experience but for me I had to know. I have had 4 miscarriages and 1 termination due to Trisomy 13. I couldn't bare to not know. I decided on the CVS and research the pros and cons. I got the CVS at 12 weeks and went to one of the best doctors in NY. Dr. Wompner...I would only go to him and he assured me his m/c rate was very low. Since I was carrying twins they had to do one vaginally and one abdomally. No issues at all and my twins are perfect!

Best of luck with your decision....

Cheryl
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Joined: May 8th, 2012, 12:55 am

July 10th, 2012, 9:45 pm #7

hi everyone.
i just confirmed my bean is still holding on in there - 8wk scan found the heartbeat again and still measuring on track. what a relief! so now i'm moving to the next step - genetic testing. when i was pregnant with DS 4 years ago, it was a total no-brainer for me - i wanted a CVS to know definitively and early if i had a genetically normal baby. it all worked out, so i assumed i would do go with the same plan again if i were lucky enough to get pregnant again. well, fast forward 4 years and 3 MCs and discovery of antiphospholipid syndrome (autoimmune clotting disease) etc etc etc and things have changed. the b.eer center, my RI, advises against CVS as immune patients are at a greater risk of having the procedure induce miscarriage. at this point, i don't feel there is any way i can risk this pregnancy by having a CVS, even though the old me swore there was no way i'd ever not get one! there are new prenatal blood tests (materniT21 by sequenom is one of them, and there are a couple others) that can get fetal DNA from a maternal blood sample and test for the 3 trisomies. that test can be done at 10 weeks with results in about 2 weeks. i am so grateful for this option and am scheduled for the test. but there are A LOT of other problems that a CVS or amnio test for that aren't covered by the new blood test. then there is the nuchal test. it seems that a lot of you take great comfort from your nuchal results. but i know there are a lot of false positives (in both the soft markers and the blood work) and i don't want to be unnecessarily stressed. i think there is less risk for immune patients with an amnio, but there are still risks, of course and it just seems so awful to find out so late if there is a devastating problem. i also think a lot can be seen at the 20 week anatomy scan, but again such a very long time to wait. i know there are no guarantees but i'm just trying to think through the options and figure out how to best get the most information as early as possible. i know this is such a hugely personal thing, but i am very interested in how others process the need/desire for definitive answers against the risks of invasive testing. i have my appointment with the genetic counselor this week, which maybe will give me some more insight. but as per usual, i'm more interested in your thoughts if you're willing to share. thank you so much!
Hi BroodyHen,
DH and I just faced this challenge last week. It seems like for a while it is just a struggle to get pregnant, then a struggle to stay pregnant. My biggest fear with the amnio was the risk of miscarriage of our twins. A risk I could not bear at this point. We opted for the nuchal scan and MaterniT21 blood test. Pending those results we will go foreward with the amino if the tests reveal that it is necessary. You are correct that the new blood test only looks at chromosomes 21, 18 and 13. But the answers are definite yes or no. I hope you make the best decision for you and your little one sending you peace and look foreward to an update.
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BroodyHen
BroodyHen

July 12th, 2012, 2:46 pm #8

hi everyone.
i just confirmed my bean is still holding on in there - 8wk scan found the heartbeat again and still measuring on track. what a relief! so now i'm moving to the next step - genetic testing. when i was pregnant with DS 4 years ago, it was a total no-brainer for me - i wanted a CVS to know definitively and early if i had a genetically normal baby. it all worked out, so i assumed i would do go with the same plan again if i were lucky enough to get pregnant again. well, fast forward 4 years and 3 MCs and discovery of antiphospholipid syndrome (autoimmune clotting disease) etc etc etc and things have changed. the b.eer center, my RI, advises against CVS as immune patients are at a greater risk of having the procedure induce miscarriage. at this point, i don't feel there is any way i can risk this pregnancy by having a CVS, even though the old me swore there was no way i'd ever not get one! there are new prenatal blood tests (materniT21 by sequenom is one of them, and there are a couple others) that can get fetal DNA from a maternal blood sample and test for the 3 trisomies. that test can be done at 10 weeks with results in about 2 weeks. i am so grateful for this option and am scheduled for the test. but there are A LOT of other problems that a CVS or amnio test for that aren't covered by the new blood test. then there is the nuchal test. it seems that a lot of you take great comfort from your nuchal results. but i know there are a lot of false positives (in both the soft markers and the blood work) and i don't want to be unnecessarily stressed. i think there is less risk for immune patients with an amnio, but there are still risks, of course and it just seems so awful to find out so late if there is a devastating problem. i also think a lot can be seen at the 20 week anatomy scan, but again such a very long time to wait. i know there are no guarantees but i'm just trying to think through the options and figure out how to best get the most information as early as possible. i know this is such a hugely personal thing, but i am very interested in how others process the need/desire for definitive answers against the risks of invasive testing. i have my appointment with the genetic counselor this week, which maybe will give me some more insight. but as per usual, i'm more interested in your thoughts if you're willing to share. thank you so much!
thanks very much to each of you for sharing your thoughts. even though it is such a personal decision, it really helps my thought process to hear your experiences. i really appreciate it. i just had my genetic counseling and have decided to start with the materniT21 blood test and the nuchal/blood test and see where we are. i am not going to do a CVS. if things don't look promising we can do an amnio at 16 weeks. i get the materniT21 test next week when i'll be 10wks, then another 2ww thinking positive thoughts...

anyway, thank you so much!
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