Bad NT scan results...should I get a second opinion?

[kristinc]

did they say what your other ds markers were? i am shocked that it is just the nuchal fold that is a marker and your odds are so high.

[Sarawithouth]

Maternal age factors in there too. But those odds do seem VERY unusually high!

Sent from my bed or on the move.

[Djuna2]

Originally Posted by beaniemom Thanks for all of your feedback and support. I know intellectually that these are just odds and mean nothing in themselves...but emotionally that logic isn't sinking in.:/ I am torn about doing an amnio. Just as there has to be that "1" in X that has a chromosomally abnormal baby, there has to be that "1" that has complications from amnio or CVS. I have been looking into the new blood test that has just started being offered in 20 cities by a private lab called Sequenom--and my city happens to be one of them. It's a non-invasive blood test that is 99% accurate at identifying Down's in a fetus. It does not identify other chromosomal abnormalities (yet), but my risk for T13/18 is 1/5000 or something, so I'm not as concerned about that. Has anyone else had this done? Other tests of this nature are under way, so invasive testing procedures may soon be a thing of the past. Also, I could have it done now, rather than waiting three weeks for an amnio.

I have looked into that test; it wasn't yet available with my other pregnancies. I am waiting on my NT/quad screen results (which I get next week) to decide whether or not I will do further testing of any kind (I am 39 so start with higher odds). When I was researching the new blood test, the literature on it was thin and the sample size on the test was very small. Since, for me, the point of further testing is to feel really and truly confident that my baby does or does not have a chromosomal disorder if I have had a positive screen, I would not feel my desired confidence based on the existing literature (I imagine in a few years, with replicated results, I would, and for me, if my integrated screen results were good, I would consider the blood test). But, depending your reasons for further testing and (perhaps) an unwillingness to do invasive testing, it might be right for you.

[mommy2kaitlyn]

Originally Posted by tygr2410 The only thing that's going to give an absolute answer is an amnio. They are done at 14 weeks generally. If you aren't interested in terminating, then I would just do the u/s as scheduled and try not to worry too much about it since other things looked good If you would terminate if 100% sure of downs, then get the amnio.

Amnio's are not 100% sure! My friend had a baby without downs girl after an amnio came back with a 100% positive for downs. She had one marker and I forget which. Sadly I can't ask my friend, she passed away last year.

[TwinKristi]

Originally Posted by mommy2kaitlyn Amnio's are not 100% sure! My friend had a baby without downs girl after an amnio came back with a 100% positive for downs. She had one marker and I forget which. Sadly I can't ask my friend, she passed away last year.

This has been brought up before, but the chances are so slim for this to really happen. The only time this happens isn't from a false result, but from a contaminated sample. DNA is not wrong.
I'm not trying to be snarky or start a debate because that's not what this thread is but I would hate for someone like the OP to get an amnio and not believe the results because of a story on DS.

OP- If my Nt scan and bloodwork came back with those numbers I would probably get a Level II u/s, whatever non-invasive testing I could before getting an amnio. Like many have said, not because I would terminate for downs, but to be prepared and not wonder and worry my whole pregnancy.
I'm sorry you have to go through this. Please KUP!

[SashaE80]

Just one thought, are you absolutely certain of your dates? With fetal growth almost a week ahead that can really skew your results.

[beaniemom]

It has been awhile, so I thought I would give an update. Since getting my 1/11 risk for Down syndrome, I have gone through lots of emotional extremes, finally settling somewhere in the "acceptance" realm. I was really torn about doing an amnio and told myself that if there were any other markers during the level II u/s, I would do it. My husband was leaning towards it anyway. I had the appointment yesterday and everything was perfect--except that they found a calcium deposit (EIF) on the heart--which is the softest of Down syndrome markers and found frequently in the typical population. However, because of my already elevated risk, that increased my risk to 1/10. Awesome. So I just went ahead with the amnio so I can know for sure. It was such a scary procedure for me because I kept imagining the worst case scenario, but it has been over 24 hours now and all is well.

So I am now trying to patiently wait for my FISH results. Of course, silly me scheduled the test on a Thursday before a holiday weekend, so what I would normally find out in two days, I won't know until Tuesday! Argh. I know there is still a 90% chance that my baby is healthy, but I am pretty much prepared to have a positive result at this point.

At any rate, I just wanted to thank you for your thoughts and kind words.

[cedricsmom]

Good that the amnio went well. I hope whatever the outcome gives you peace of mind.

[stevensmom]

parying for the best

[png_lovebirds]

Hoping and praying for the best! KUP!!