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Old Mar 14th, 2013, 14:04 PM   1
spinneybaby
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Increased risk of Down's Syndrome


So, we were told last evening that our baby is at an increased risk for Down's Syndrome. Based on my maternal serum blood Screening, It is a 1:164 chance which I know still seems low since it's only a 0.6% chance that our baby will have Down's but it is incredibly emotional and difficult to hear that your baby may be anything other than perfect. We go for a high tech ultrasound next Wednesday the 20th to look for "markers" of Down's Syndrome. Based on that we will decide if we would like to risk the amnio. If there are no markers found on the ultrasound, our risk improves to 1:328 which is considered in the normal range. This is one of the most worrying times I have ever been through...I am really trying to focus on the 99.4% chance of having a perfectly healthy baby but it is really hard! Has anyone else been through this? What were your experiences? I'm 28 and really didn't expect it at all!



 
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Old Mar 14th, 2013, 14:40 PM   2
hopefully4
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i was told the same except mine came back 1:120 rink for spina bifida.. try to relax the false positive rate on these test are through the roof! and my baby boy turned out to be just fine at the ultrasound



 
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Old Mar 14th, 2013, 14:58 PM   3
Cala
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After blood work I was given the risk of 1:170, which is very close to your numbers and I'm not worried. After my sono, they did measurements of the neck at the base of the skull and it came back normal. The genetic counselor I spoke with was wonderful! She assured me the risk factor always comes back and seems to be high and not in the baby's favor, but it is not a yes or no test.

She gave me an incredible visual.... imagine you have a big bowl in front of you. In that bowl she places 1,000 white marbles and 1 black marble (this represents down syndrome). Now, add another 1,000 because of your age. Add another 1,000 because you have no family history of D.S., add another 1,000 because you are healthy, not a drug user, etc. Where is that black marble and try to pick it out blind folded.

To have the amnio is obviously a personal choice. We've chosen not to have one... regardless of what this baby has, as long as it isn't life threatening, he or she is coming into this world.

Also, I was born with spina bifida. A very rare form of it. I had the marking on my lower spine, very thin skin and veins close to surface. I grew normal until the age of 9 when I needed to have a tumor removed from my lower spine.... that is when they diagnosed me. I bounced back from that surgery, but had another tumor and more complications in 2006. After a second surgery, I was left without feeling in my legs and feet, went into a spinal rehab facility to learn how to walk again. It took me 3 months to do it and it took me a year to walk without a cane. After 7 years (and 4 more surgeries to my left foot and ankle due to nerve damage) I still don't feel any of my toes and my left foot and most of my left leg are sketchy. I walk out of memory.... and you would never know looking at me what I've gone through....

My point with all that.... a baby born with spina bifida has such a better outlook than those born even when I was (1976) and I am very fortunate. Also, a baby with down syndrome can be incredibly successful in life as long as you are strong enough and patient enough to show them and teach them, and honestly, I don't see how that is any different than how you would raise a healthy child.

I wish you well with all your tests and only hope the very best for you and baby!!




 
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Old Mar 14th, 2013, 15:06 PM   4
spinneybaby
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Thanks for your reply. it's encouraging to hear. I'm glad your baby boy is perfect



 
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Old Mar 14th, 2013, 15:09 PM   5
Scout
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My risk was 1:11 and testing came back with baby being healthy.



 
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Old Mar 14th, 2013, 15:10 PM   6
spinneybaby
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Cala- I'm glad your ultrasound went well. we have ours next Wednesday and have our fingers crossed for the same. Thank you for giving me a great perspective.

Good luck with your pregnancy!



 
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Old Mar 14th, 2013, 15:18 PM   7
littleone2010
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We were given a high risk of 1:13 for a chromasome syndrome/abnormality after bloods and nt measurement. I was devastated. It's very hard to hear that your baby may not be how you imagined. I made the choice to have a cvs (where they take a sample of placenta and test it - again its a yes or no answer) it was so difficult waiting for the results and the actual proceedure was an awful experience but we got the results back that everything is fine and she has no chromasome abnormalities. Now I'm anxiously awaiting my anomaly scan to make sure they is nothing more to worry about. It really does put a damper on what should be a happy and exciting time. I just wanted to give you reassurance that I'm sure everything is just fine.. You will know more after the scan. Wish you lots of luck, if you need to chat do feel free to message me xxxx



 
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Old Mar 14th, 2013, 15:35 PM   8
mommatoabeaut
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A friend of mine was high risk, they first offered her a termination before they even mentioned the amnio.
She refused the termination. Had the amnio and he was fine



 
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Old Mar 14th, 2013, 19:03 PM   9
twinmummy06
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I've just been put in a similar situation. 12 week scan looked perfect, 1.7mm NT. Risk for Down's syndrome was about 1:4500, but once they paired it with my blood screening it rose to 1:79

I've been reading a lot about the bloods giving false positives so am clinging to that hope. We have chosen to go through with an amnio in 1.5 weeks. The wait for the results are going to drive me insane



 
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Old Mar 14th, 2013, 19:09 PM   10
spinneybaby
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Thanks for all of the support and reassurance...twinmommy, I'm so sorry to hear you are going through the same experience...it's awful...I was a wreck last night and this morning but am doing much better now. The Lord won't give us what we can't handle and I am praying for a healthy baby but won't terminate either way. I would like to know for sure so we can properly prepare ourselves.

I'm so glad to hear most of your success stories...it's very reassuring!



 
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