Down syndrome screen testing.

Ashleee92

Hi lady's, I got my test results back yesterday. The docotor said I was in the high risk ( just slighly) . I'm only 22, with no family history of it on my side or my partners side. It's up to me if I want to go ahead and get the second testing done. I'm so confused by all of this and scared to.
If I didn't go ahead with the second testing do you think I have anything to worry about.?
I hear a lot of people say they are in the high risk and their baby is perfectly healthy.

notquiteblushing

I'm sorry you're dealing with this.  Did they give you a referral to a genetic counselor?  What test options are you considering?

lwyz

Something to keep in mind is that my doctor said a 1 in 200 chance comes up as high risk. That's a 0.5% chance. And he told me about all sorts of women that had even higher chances and their babies were perfectly fine and that they regretted it because it just made them freak out the entire pregnancy.

maddibayer

Our results came back with chromosome abnormalitys which is the only reason I did the test. I will not abort either way but it is helpful to be prepared. Ie scheduling meetings with your nearest children's hospital and such. It's really on what you would do if the results are positive or if you just really want to be prepared. The risks with amnio are very small and if done right and at the right time should be just fine. I had one with my daughter about six years ago and yesterday. They are very helpful but also pretty painful. I wish you the very best !! I know there is also a blood test that will look at babies DNA and will tell you for sure about Down's syndrome. Our blood test came back 46xxx which isn't downs but chromosome. It will tell you the sex of the baby too. If your results are say 47xy that would be a boy with downs. I hope this helps! Maybe ask them about the blood test for babies DNA. That is less invasive.

leenziepops

It's definitely a personal choice and something to talk about with a genetics counselor. I've had two women in my life who were categorised high risk, one resulted in a perfectly healthy baby, and the other resulted in a loss. The one who had the loss had a 1/160 chance and chose to get CVS. Hope everything works out for you and your LO.

katedecanto

Amino & CVS carries a risk of miscarriage. If you are not planning on terminating and couldn't live with possibly loosing your baby, I would just skip it. My midwife said that sometimes the blood tests can give a false positive for a risk, and even if you are at risk it still doesn't mean your baby will have it.

sideboth

Check to see if you are eligible/covered by insurance for any of the new genetic testing.  Non invasive and for DS usually a 99% accuracy rate.

tinybride717

I second sideboth. A lot of us had first tri screens come back with elevated risk and chose to do non-invasive testing (eg Harmony, Panorama, verifi, MaterniT21, etc.). My midwife said they're almost as accurate as amnio but with none of the risk. It's just another blood draw. I'm still waiting for my results on Harmony. I hope you have this option - but even if insurance won't cover it, some of the companies will charge only a base fee for the testing so you're not out thousands of dollars for one screening.

darvo

It's really scary and confusing, I agree. I'm sorry you're having to worry about this. We haven't gotten our results back yet, but if anything is red flagged we'll do more noninvasive testing, then go from there. Good luck with your decisions! It's tough stuff.

Ashleee92

Sorry it's taking me so long to write back to you ladys, thank you so much for all the advice you have even me.
I had a 126/1000 chance that our baby would have something, we decided to go through with the amino testing, the doctors were really surportive. The little one is still baking in the oven,
I got my results back 2 weeks later..
EVERYTHING IS FINEEE YAY.!
It came back very high because I've got very low protein levels. it's just a huge reflief to have it over and done with.!
So thank you again ladys, you were all very helpful. xx

akmhbm924

Long story short, my results came back at 1 in 9. I had the level II ultrasound done to look for "soft markers", and none were found. For my own peace of mind, I had the amniocentesis done. I got my FISH results back yesterday, and my baby girl is perfectly healthy! Good luck with whatever you decide!

akmhbm924

Ashleee92 said:

Sorry it's taking me so long to write back to you ladys, thank you so much for all the advice you have even me.
I had a 126/1000 chance that our baby would have something, we decided to go through with the amino testing, the doctors were really surportive. The little one is still baking in the oven,
I got my results back 2 weeks later..
EVERYTHING IS FINEEE YAY.!
It came back very high because I've got very low protein levels. it's just a huge reflief to have it over and done with.!
So thank you again ladys, you were all very helpful. xx

Oops! Just saw this! So glad your results came back negative!