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Kelly9904
Mommy to 2 amazing little boys
Member since 5/05 9306 total posts
Name:
Kelly
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pregnancy & downs syndrom testing
I have a question, if you had an elevated risk of having a child with DS during your pregnancy discovered through early sonos or blood work, what were your #s (1 in X chance) what did you do regarding further testing and what was the end result.
Someone close to me is pregnant and during the soon the baby's neck measured thick and then her blood work came back elevated as well they are going for an amnio but I am just curios what others experiences.
Thanks
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Posted 2/10/12 2:41 PM  |
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cheryl28
LIF Adult
Member since 2/10 4657 total posts
Name:
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Re: pregnancy & downs syndrom testing
They scared the heck out of me. Dh was away on business and I got a call that my sono had a few red flags. 1 was a egogenic foci on her heart (a spot on her heart) and a big space btw her big toe and second toe. They wanted me to go to high rick drs. to get further testing and a better sono. UGGGHH i was a mess. I of googled this, at work, thank goodness my class was gone for the day. NEVER GOOGLE   and these signs are old markers for downs that they still semi use.
They went through the family history with us at High risk and I can't remember the exact numbers but I want to we had 1 in 1000 chance of her having downs. We did not do the early blood work to test b/c I didn't want to know the whole pregnancy that I would have a 1 in whatever chance. So we had no clue. They explained that we could do further testing with amino and blood work. If I remember correctly she measured everything else fine. We decided to not go for more testing and just let it be. We would not terminate no matter what so I didn't make sense to put my pregnancy at risk.
As it turned out on May 24, 2010 I had my baby girl and she was 100 % fine. Everything about her. She has her daddy's toes that have a gap, called sandal toe by the way. And 1 in 5 have it (high risk told me this). She does have a spot on her heart that is common but doesn't mean anything and a murmur that they think will close up on her own.
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| Posted 2/10/12 3:10 PM |
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jlk51496
Mom of 3 - YIKES! =)
Member since 10/09 6758 total posts
Name:
Katie
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Re: pregnancy & downs syndrom testing
THE NT sono and bloodwork came back 1 in 150
I originally freaked out. I was devestated. i didnt know what to do with this info. as far as getting an amnio...So i decided to wait until the 2nd test.
The 2nd test (blood test only) came back 1 in 250. We decided to not do the amnio bec we did the math and we felt since the chance went down...that this could only be a good thing...and the chance of having a MS due to amnio was greater than a 1 in 250 anyway..
WELL this haunted me for the rest of my pregnancy..I had a thousand what if questions for the next 6 months. and kinds regretted not getting definitive answers. it drove me nuts not knowing.
fast fwd.....I gave birth to a beautiful healthy baby girl..no issues, no signs of downs. That stupid NT test had me all worried for nothing!
Message edited 2/10/2012 3:41:15 PM.
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| Posted 2/10/12 3:40 PM |
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noworlater
LIF Adult
Member since 2/11 1528 total posts
Name:
Now!
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Re: pregnancy & downs syndrom testing
My NT came back normal but my APF came back around 1 in 200 or little less, I forget exactly. The sonograms showed a baby in normal development but my placenta had blood clots in it - which could cause an off APF score - with close monitoring my baby boy was born early but healthy.
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| Posted 2/10/12 5:14 PM |
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CunningOne
***
Member since 5/05 26975 total posts
Name:
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Re: pregnancy & downs syndrom testing
With my 3rd pregnancy, my NT sono showed a very large neck thickness (it was measuring a 4.7, whereas the highest cutoff would be 3.5). My OB didn't even bother with the associated blood work at 12 weeks because of my age (39). I didn't want to wait for the amnio and went right for the CVS test.
The results of the CVS test came back normal, all pairs of chromosomes were there. I went on to also have early anatomy scans, an echocardiagram, and the APF bloodwork at 16 weeks (which came back in a range of about 1/10,000 which was great for me at age 39). We did see a genetic counselor along the way and declined further genetic testing of the material that was extracted during the CVS test (insurance did not pay for it, which ultimately led our decision process).
The baby is not here yet, but I pray all is healthy, as everything has indicated thus far (well, aside from the increased neck thickness!).
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| Posted 2/10/12 5:55 PM |
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Ookpik
LIF Adolescent
Member since 3/06 726 total posts
Name:
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Re: pregnancy & downs syndrom testing
For my 2nd, I had a risk of Down's 1 in 12 and Trisomy 13/18, 1 in 6. I had an amnio and (although it was the worst wait ever), everything came back perfect. I have a VERY healthy, robust 4 year boy. 
Definitely helps to have the FISH done along with the amnio!
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| Posted 2/10/12 6:02 PM |
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Kelly9904
Mommy to 2 amazing little boys
Member since 5/05 9306 total posts
Name:
Kelly
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Re: pregnancy & downs syndrom testing
Posted by Ookpik
For my 2nd, I had a risk of Down's 1 in 12 and Trisomy 13/18, 1 in 6. I had an amnio and (although it was the worst wait ever), everything came back perfect. I have a VERY healthy, robust 4 year boy.
Definitely helps to have the FISH done along with the amnio!
THank you! This makes me feel so much better. My #s with DS2 were 1 in 10,000 so I really know so little about this. I think their #s are 1 in 24 so when I compared it to mine, my heart sank. But its so good to hear that your # werent good either and you had a healthy DS!!!
You would think I should know this considering I have 2 children but whats the FISH?:
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| Posted 2/10/12 9:39 PM |
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lvdolphins
My Loves!
Member since 5/05 46292 total posts
Name:
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Re: pregnancy & downs syndrom testing
My DD has Down Syndrome.
Feel free to FM me with any questions. 
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| Posted 2/10/12 10:14 PM |
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Ookpik
LIF Adolescent
Member since 3/06 726 total posts
Name:
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Re: pregnancy & downs syndrom testing
FISH is like these little markers they attach to the chromosomes to count them. The results usually only take a few days, as opposed to waiting for the full amnio results, which can take weeks. When I did FISH, my chromosome count came back perfectly so that eliminated the Trisomy 13/18. I was so much more relieved with that and was able to get through the next few weeks. 
My numbers were really bad but through it all, my DH kept saying the odds were still in our favor.
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| Posted 2/11/12 9:59 AM |
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jteach
2 and through
Member since 9/07 3939 total posts
Name:
Jess
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Re: pregnancy & downs syndrom testing
I am not preggo, my dd is 14 months old but just wanted to share my story. My blood work came back fine from my NT scan and the sono showed no markers. At 16 weeks I did the AFP and the sono had a few markers, short femur bones, and a missing or short middle bone in the pinky finger. I was only 31yrs old and they told me I had a 1 in 10 chance for downs. I was a mess, no joke, anxiety attacks, depression, even ended up in the hospital because I couldn't eat or drink and started cramping. Anyway we went to go have an amnio and right before they started the nnurse walked in and said my blood results just came in. They ran the #'s and it went from 1 in 10 to 1 in 85. We decided to wait on the amno and do an early level 2 at 19 weeks. Well all the markers they saw at 16 weeks were gone. Could have even been bad measuring on the sono techs part and my new #'s were 1 in 15,000. My dh was so mad that the dr didn't wait until they had all the info before they scared the shiit out of us and ruined 4 weeks of my pregnancy for us. We will NEVER do these tests again, actually they are not tests they are a screening that a computer spits out numbers based on so many things. And actually what's crazy is that about half of the kids born with downs do not even have postive screenings with these tests. So what is really the point
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| Posted 2/11/12 10:21 AM |
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Marcie
Complete Happiness :)
Member since 5/05 27789 total posts
Name:
LOVE being a Mommy!
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Re: pregnancy & downs syndrom testing
my #'s came back 1/74, chance.
Saw a genetic counselor, decided didnt want an amnio...had more testing done. Chances were a little better....20 weeks later, had a perfectly normal baby girl
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| Posted 2/11/12 12:21 PM |
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MrsS2005
Mom of 3
Member since 11/05 13118 total posts
Name:
B
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Re: pregnancy & downs syndrom testing
Posted by jteach
I am not preggo, my dd is 14 months old but just wanted to share my story. My blood work came back fine from my NT scan and the sono showed no markers. At 16 weeks I did the AFP and the sono had a few markers, short femur bones, and a missing or short middle bone in the pinky finger. I was only 31yrs old and they told me I had a 1 in 10 chance for downs. I was a mess, no joke, anxiety attacks, depression, even ended up in the hospital because I couldn't eat or drink and started cramping. Anyway we went to go have an amnio and right before they started the nnurse walked in and said my blood results just came in. They ran the #'s and it went from 1 in 10 to 1 in 85. We decided to wait on the amno and do an early level 2 at 19 weeks. Well all the markers they saw at 16 weeks were gone. Could have even been bad measuring on the sono techs part and my new #'s were 1 in 15,000. My dh was so mad that the dr didn't wait until they had all the info before they scared the shiit out of us and ruined 4 weeks of my pregnancy for us. We will NEVER do these tests again, actually they are not tests they are a screening that a computer spits out numbers based on so many things. And actually what's crazy is that about half of the kids born with downs do not even have postive screenings with these tests. So what is really the point
I'm not really sure where you're getting your information that the screening tests are only 50% accurate. Yes, it's a screening test and is not a diagnosis. The tests provide the odds of the baby not only having Downs Syndrome, but other conditions as well. The results are based on measurements, gestational age and the mother's age. It's common for there to be "false positives," but it's up to each couple to decide whether to have diagnostic testing done.
I completely agree that it's nerve racking to have elevated risks, but I disagree that there's no point to the tests. The measurements can be indications of other issues as well, which may or may not show up at the time the Level II is performed.
It's a personal decision whether to do the tests and whether to do more invasive testing after receiving the screening results. I'd meet with a genetic counselor, go over the risks of the invasive tests and then decide whether to do something now or wait until after the results from the AFP and Level II.
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| Posted 2/11/12 12:32 PM |
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jteach
2 and through
Member since 9/07 3939 total posts
Name:
Jess
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Re: pregnancy & downs syndrom testing
Posted by MrsS2005
Posted by jteach
I am not preggo, my dd is 14 months old but just wanted to share my story. My blood work came back fine from my NT scan and the sono showed no markers. At 16 weeks I did the AFP and the sono had a few markers, short femur bones, and a missing or short middle bone in the pinky finger. I was only 31yrs old and they told me I had a 1 in 10 chance for downs. I was a mess, no joke, anxiety attacks, depression, even ended up in the hospital because I couldn't eat or drink and started cramping. Anyway we went to go have an amnio and right before they started the nnurse walked in and said my blood results just came in. They ran the #'s and it went from 1 in 10 to 1 in 85. We decided to wait on the amno and do an early level 2 at 19 weeks. Well all the markers they saw at 16 weeks were gone. Could have even been bad measuring on the sono techs part and my new #'s were 1 in 15,000. My dh was so mad that the dr didn't wait until they had all the info before they scared the shiit out of us and ruined 4 weeks of my pregnancy for us. We will NEVER do these tests again, actually they are not tests they are a screening that a computer spits out numbers based on so many things. And actually what's crazy is that about half of the kids born with downs do not even have postive screenings with these tests. So what is really the point
I'm not really sure where you're getting your information that the screening tests are only 50% accurate. Yes, it's a screening test and is not a diagnosis. The tests provide the odds of the baby not only having Downs Syndrome, but other conditions as well. The results are based on measurements, gestational age and the mother's age. It's common for there to be "false positives," but it's up to each couple to decide whether to have diagnostic testing done.
I completely agree that it's nerve racking to have elevated risks, but I disagree that there's no point to the tests. The measurements can be indications of other issues as well, which may or may not show up at the time the Level II is performed.
It's a personal decision whether to do the tests and whether to do more invasive testing after receiving the screening results. I'd meet with a genetic counselor, go over the risks of the invasive tests and then decide whether to do something now or wait until after the results from the AFP and Level II.
I didn't say they were 50% accurate. I said that half the time a baby that is born with downs it never showed up on the screenings. I did a TON of research and after all of it I decided that it wasn't worth it to me to have it done again if I were to pregnant for a 2nd time. I would never tell anyone NOT to do it. I was sharing my experience which is what the original poster requested.
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| Posted 2/11/12 1:37 PM |
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butterfly668
LIF Adolescent
Member since 6/09 771 total posts
Name:
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Re: pregnancy & downs syndrom testing
With my first pregnancy my numbers were 1 in 69 chance for downs....we did the amino which took forever to come back, and the baby had turners syndrome 
The neck fold measured normal.
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| Posted 2/11/12 2:57 PM |
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Ookpik
LIF Adolescent
Member since 3/06 726 total posts
Name:
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Re: pregnancy & downs syndrom testing
I feel, for myself, of course (and given my age)-if I were to opt for a 3rd child, I might even pass on the NT scan and go right to amnio. Like someone else mentioned, it's a very personal decision but I would automatically do it no matter what the NT scan showed.
I was very on edge, didn't bond with my son until I knew for sure and my chances of something seriously wrong (Trisomy 13/18) were extremely high. The amnio was a small price to pay for having some peace of mind.
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| Posted 2/11/12 6:33 PM |
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jandt2006
LIF Adult
Member since 8/05 1338 total posts
Name:
Teresa
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Re: pregnancy & downs syndrom testing
it's funny u mentioned this because my blood test was read to me the other day and got me upset. I'm 33 but my levels were based on a 35yr old. I'm 1 in 308 as opposed to 1 in 380. We are most likely not going to a genetic counselor, and defintely not doing an amnio. What would u ladies do? would u see the counselor with my numbers? ps. the sono was fine.
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| Posted 2/11/12 10:25 PM |
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MrsS2005
Mom of 3
Member since 11/05 13118 total posts
Name:
B
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Re: pregnancy & downs syndrom testing
Posted by jteach
Posted by MrsS2005
Posted by jteach
I am not preggo, my dd is 14 months old but just wanted to share my story. My blood work came back fine from my NT scan and the sono showed no markers. At 16 weeks I did the AFP and the sono had a few markers, short femur bones, and a missing or short middle bone in the pinky finger. I was only 31yrs old and they told me I had a 1 in 10 chance for downs. I was a mess, no joke, anxiety attacks, depression, even ended up in the hospital because I couldn't eat or drink and started cramping. Anyway we went to go have an amnio and right before they started the nnurse walked in and said my blood results just came in. They ran the #'s and it went from 1 in 10 to 1 in 85. We decided to wait on the amno and do an early level 2 at 19 weeks. Well all the markers they saw at 16 weeks were gone. Could have even been bad measuring on the sono techs part and my new #'s were 1 in 15,000. My dh was so mad that the dr didn't wait until they had all the info before they scared the shiit out of us and ruined 4 weeks of my pregnancy for us. We will NEVER do these tests again, actually they are not tests they are a screening that a computer spits out numbers based on so many things. And actually what's crazy is that about half of the kids born with downs do not even have postive screenings with these tests. So what is really the point
I'm not really sure where you're getting your information that the screening tests are only 50% accurate. Yes, it's a screening test and is not a diagnosis. The tests provide the odds of the baby not only having Downs Syndrome, but other conditions as well. The results are based on measurements, gestational age and the mother's age. It's common for there to be "false positives," but it's up to each couple to decide whether to have diagnostic testing done.
I completely agree that it's nerve racking to have elevated risks, but I disagree that there's no point to the tests. The measurements can be indications of other issues as well, which may or may not show up at the time the Level II is performed.
It's a personal decision whether to do the tests and whether to do more invasive testing after receiving the screening results. I'd meet with a genetic counselor, go over the risks of the invasive tests and then decide whether to do something now or wait until after the results from the AFP and Level II.
I didn't say they were 50% accurate. I said that half the time a baby that is born with downs it never showed up on the screenings. I did a TON of research and after all of it I decided that it wasn't worth it to me to have it done again if I were to pregnant for a 2nd time. I would never tell anyone NOT to do it. I was sharing my experience which is what the original poster requested.
Again, I'm not sure where you're getting your information on that. From what I've read, the NT scan combined with the blood work is 80% accurate and the integrated test is 60% accurate for detecting Downs Syndrome. My comments were directed at your "what's the point" statement. There are plenty of reasons to have the testing done, but it can certainly cause unnecessary worry and stress. It's a personal decision how far anyone wants to go with testing. I've had elevated results with a few of the conditions tested. As much as it has caused a lot of worry, I'd personally rather know and be prepared.
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| Posted 2/12/12 7:29 AM |
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