question about amnio and ultrasounds...

codyb

Hi, I got a phone call from my doctor today telling my quad screen blood test came back with a high risk for downs syndrome, I am here to ask if any of you ladies had this and then further testing such as a high level ultrasound or an amnio.  My doctor stated that I had a 1 in 291 chance of downs syndrome and stated that it is just a pre-cursor to get further testing.  Any info would be greatly appreciated, I am still kind of taking all the info in...

Sarahpep

Hi. I'm sorry that you have to go through this. DH and I know the pain all to well of this news. Just 3 weeks ago, we received an elevated level for Trisomy 18. We decided to go through and do further testing (amnio and ultrasound). The amnio. was slightly painful, but the worst part was waiting for the results of the test. 2 days following the test. After the test, I did have some minor cramping for about We did received our FISH results (preliminary) results within 6 days of the test, but, again, our life felt as though it was on hold for those long 6 days. With that being said, however, I would do it again in a heartbeat. The decisions we would have been forced to make if I was carrying a child with Trisomy 18  would have had to have been made rather quickly, and for this reason we would have done it again in a heartbeat. Also, following the results of the amnio, we were able to say with 100% confidence that our DC did not have Tri. 18 so it provided us with piece of mind.

Again, good luck with whatever you decide. It's a decision that only you and your DH can make. Don't let anyone influence your decisions.

Kbrat

I am just popping onto this board and thought I would give you my two cents.  My DS is 9.5mo and perfectly healthy.  When I had those same tests done, the chances he had DS were 1 in 75, pretty high.  We chose to do the level 2 US but no amnio.  They saw nothing and it would not have made my choice different except I would have educated myself more.  It is completely up to you and your husband what you choose, but GL.  I know the waiting and wondering is hard.

Kensor

Did you do a NT Scan?  I did the NT Scan and my odds came back as 1:10,000 for having a baby with downs.  Then I did the quad and my odds came back as 1:259.  I am trying to figure out what to do now.  What is your doctor saying?

codyb

I did not have the NT scan, I am now scheduled to meet with a genetic counselor and have a level 2 ultrasound, possibly an amnio if it comes down to it.  My doctor is encouraging further testing and said it was fine to do the less invasive first. I spoke with the tech who does the ultrasounds and she said they are pretty high tech and can see everything in detail, unfortunately we have to wait until Dec 3, so that I am 20 weeks to see everything.  I wish you luck with your decisions too, It is awful to have to think about them.

clarapist

I am 37, so I had an NT scan and then an early blood screen. I was going to decide on an amnio based on those results. Well, the NT screen was fine, however the bloodwork came back as 1 in 15 risk for Down Syndrome.  So, I had the amnio done.  It came back fine. With my first pg, I was 35 and bloodwork and u/s were all normal, so I didn't have an amnio.

 Here's my take on your situation: I believe that the reason that they told you that your risk for DS was "high" is because compared to the risk for an average person your age (1 in 1288 https://www.cdadc.com/ds/down-syndrome-risk-factors.html)  it is higher. Keep in mind that 1 in 291 is still on 0.3% risk! (Doesn't that sound much better? That's a 99.7% chance that baby does not have DS. 1 in 15 for me was 6.66% and that's what I was hanging on to. )  At that level, if it were me, I'd probably just wait to get the level 2 u/s.  ON THE OTHER HAND, if you want peace of mind, the amnio really was not that bad. I would ONLY let a perinatologist do it. 

HTH and feel free to ask any other questions.