Genetic testing

I met with my OB yesterday for the first time (came from an RE before that) and began discussions about genetic testing. The Counsyl panel, 12 week Ultrasound (same as NT right?), amnio, etc. I had the Counsyl blood work drawn because I was there and it's just blood, but I'm so confused about what to do/not do for all the other testing. I'm a planner and want to be as thorough as possible but do not want to put this baby in harms way. Can anyone share what testing was done and when/why? Just trying to get informed so I can make my decisions. TIA!

Re: Genetic testing

i just did the first trimester testing that you get at 12 weeks, the NT scan, and tested for Tri 21, 13, and 18, and the AFP screening at 16 weeks, and that was it, whatever the standard tests are. my doc doesn't do the MaterniT21 unless your over 35, or had issues in the past.

Genetic testing

I actually just got the results of our MaterniT21 test. Our NT scan showed a soft marker on the heart, our dr said this was prob the best test to take without affecting baby. Our results were negative for all genetic abnormalities...it was a long 11 days wait but so worth it! i just needed that reassurance that our baby girl is ok.

Genetic testing

The 12 week ultrasound is the NT scan- it is part of the first trimester screen- the second part of the screen is blood work where they look at levels of two hormones- hcg and PAPP- A- they use the results of the NT measurements and the hormone levels to determine the odds that the baby could have Trisomy 21, 18 or 13. The screen is not a diagnostic test. According to my generic counselor the Maternit21 test is also a screening test and not intended for diagnostic purposes although it has a higher detection rate than the tradition screening test. CVS and amino are diagnostic tests- they will tell you if there is a genetic defect.
I had my first trimester screen done yesterday. I was told my ultrasound results look good and I am waiting for my blood work to come back on Thursday. I choose to havw the traditional hormone test done because the newer screening takes 10 business days to come back and I run the risk of being past the 14 week window for CVS. If the results from the screen look good I am not going to have CVS done- if the odds come back with a high probability of a problem then I plan to have CVS done. There is a risk of miscarriage with both CVS and amino so I do not want to take the risk- even though it is only 1:500 unless there is a high probability of a problem. My genetic counselor told DH and I yesterday that they feel you should consider a diagnostic test if the odds of trisomy 21, 18 or 13 come back higher than the risk of miscarriage. I think it is a really personal decision.

Re: Genetic testing

I did the NT and the 16 week bloods. I also did the MaternT21 because my chances for downs went up but it was still not considered to be abnormal. They did it for piece of mind.

Re: Genetic testing

Thanks ladies. I'm so glad we have the option of noninvasive testing now - but I'm concenred it doesn't give enough information. I guess I'll see how my initial tests come back (God willing all will be okay!) and then decide what to do. I have my NT scan scheduled for when I'll be 12w2d - I hope that's not too late in the game.

Re: Genetic testing

Sorry to hijack but if you had the full panel genetic testing done at your RE, is it necessary for your OB to send you again?? This includes cystic fibrosis. Mine was done in Nov and all normal.

Re: Genetic testing

Re: Genetic testing

As far as amino goes or Cvs for that matter I'm not sure why they would discuss it with you now. Did your RE ever express concern regarding genetic disorders? Do they run in the family of you or DH?
I know my doctor didn't discuss a Cvs or amino until after the NT scan showed concern coupled with my blood work.
But bear in mind that the NT scan is only a screening test and the only thing that is diagnostic are the more invasive tests.
I had the Maternit21 test done as well as a CVS due to a 1/11 risk of Downs Syndrome. We had all the testing a FISH, microarray, noonans, etc. we had the cvs because our window to have it done was almost closed md I was going crazy with worry
I did a TON of research on generic disorders and from what I read the risks of DS, T18 and T13 were the most common genetic disorders which they can test for using the maternit21 test.
We had excessive fluid behind the neck at 12 weeks. It's suppose to be less than a certain number md ours was almost double what it should be. Turned out to be nothing!!! I'm glad I did have all the additional testing because they did find a calsification (tiny) on her heart at 18 weeks which is also a soft marker for the generic disorders. Again nothing it wasn't even brought up by the dr as a concern because of all the test results
Now when I ask my dr why there was so much fluid behind her neck at 12 weeks she said that some babies lymphatic system develops a little later than others and hers probably just wasn't done developing yet. But they would much rather error on the side of caution which I get.
I personally hate the NT scan and think it can cause a lot of undue stress. Others have good results

My best advise with genetic stuff is to not look to far ahead and stay off google! Just play it one day at a time, one screen or test at a time. Otherwise you'll drive yourself crazy. Im a planner to and like to look ahead but found with something like this lookimg ahead was making me bonkers. The chances of something being wrong are soooo slim. Chances are your blood work and NT scan will be fine. But if there not remember they are only screening tests not diagnostic they are not definitive. Take a deep breath and enjoy this time. Your pregnant! Yah!!!!!

CONGRATULATIONS!!!!



Hope you were able to get something from my rambling

Re: Genetic testing

I chose to have a CVS because I already have a DD with a genetic problem, and I had a MC with a baby with a trisomy. With the CVS, they did a microarray, which is a more in-depth look at the chromosomes, as that is the only way to see the issue that my other DD has. I already knew I wanted the CVS, so I did not even bother with the Materni21 or the NT/ultrascreen. The only thing the CVS can't test for that the amnio can, is Spina Bifida, which we looked for at the 20 week sono. You have to wait much longer to have an amnio done than a CVS, and I did not want to wait that long. The docs said that there was no increased risk of Spina Bifida in my family, or in my own history, so we felt comfortable screening for this in the traditional way.

For you, unless you have an increased risk of a genetic problem, I'd just take it one step at a time. I'd do the MaterniT21, as it is just a blood test, so not invasive to the baby at all, and then take it from there.

Re: Genetic testing

Thank you all for taking the time to provide your experiences and feedback - it is SO helpful! You're right - this all can become very stressful if you let it. I, luckily, do not have any reason to believe there is an issue - I guess it's just going through all the IF treatments it's hard to believe when something actually goes right. I'm going to do my best to just take it all one day, one step at a time.

Message edited 8/29/2013 8:56:46 AM.