Genetic screening

jap618

Hey everyone.  I've been the worst bumpie for the past week; I apologize.  Between work, a stupidly packed schedule and pregnancy symptoms I'm giving into every urge to sleep.  I am hoping to have a conversation about genetic screening though.  I'm only 28 but my last pregnancy ended with Trisomy 13 (and we didn't test the first 2 for chromosomal issues) so I want to get this pregnancy tested.  I met with the nurse today and she brought up "Sequential Screening Testing" which will be blood work and an u/s before 13w6d and it screens for Trisomy 21, 18 and an open neural tube defect.  My concern is that I want the testing to focus on the Trisomy's (13, 16, 18, 21, etc.).  The nurse wasn't overly helpful today and I plan on talking to my OB more about it next week when I meet with her but the more information I can go in with the better.  So here are my questions:

What was the screening you had done (assuming you did)?

What was your reasoning for choosing that screening over the other (i.e. Harmony vs Maternit21 vs Sequential Screening, etc.)? 

Anything else I should know?

Thanks everyone!!

Edit: Some typos.

EmAre

Is there a way you could meet with a genetic counselor and not your OB? My daughter has a chromosome abnormality and, if we were choosing to test this baby, we would have to go through her genetic counselor since it isn't a "typical" deletion. (We are not testing bc we are not carriers. Her deletion was De Novo).

Best of luck!

jap618

EmAre said:

Is there a way you could meet with a genetic counselor and not your OB? My daughter has a chromosome abnormality and, if we were choosing to test this baby, we would have to go through her genetic counselor since it isn't a "typical" deletion. (We are not testing bc we are not carriers. Her deletion was De Novo). Best of luck!

We had genetic counseling as part of our RPL testing and there was no reason to suspect any hereditary traits.  The Sequential Screening does have us meet with the genetic counselor at the local MFM office though.  My fear is that this pregnancy will have a Trisomy and result in a later term loss that I could have screened for early on (even if that is irrational it's my fear).  I'm not sure what the genetic counselor can do for us until we have results back?  Maybe that's me being naive?  What can they do for us?!?!?  

EmAre

They may be more versed than an average OB in what fetal testing can be done for specific disorders. I'm not totally sure they can, but it definitely won't hurt to ask!

kflynn81

We decided to waive all additional testing with Jack until we found out about his brain malformation at the anatomy scan. I had a CVS in the MFM's office that day and since Jack was chromosomally normal we're debating whether to opt in on any of the tests now. Part of me wants them all part of me doesn't. I'd think though having a history of Trisomy would push me more towards the side of having whatever test was available done just so you're aware of any potential complications.

nohalo21

We did the Panorama test last week. Our loss was due to chromosomes (triploidy). Due to the lovely AMA tag, insurance will cover it for me. I would ask to meet with the genetic counselor. They know more about these tests than the doctors do. The counselor we saw recommends the panorama due to how they count the fetal blood to be sure they have enough for an accurate sample.

2redtulips

I am 39 and had the Materniti21 due to my age. After that, I had a blood draw to test for spina bifida because of family history.

In your shoes, I'd push for the trisomy tests as well.

peggels24

Sequential screening does not test for Trisomy 13.  However, the Panorama test does - if you go to the panorama test's website, there is a screen where you can see what each of the tests test for.  

I had the Panorama test done - it was a simple blood test and we had results in less than 2 weeks.

labgrand2012

jap618 said:

EmAre said:

Is there a way you could meet with a genetic counselor and not your OB? My daughter has a chromosome abnormality and, if we were choosing to test this baby, we would have to go through her genetic counselor since it isn't a "typical" deletion. (We are not testing bc we are not carriers. Her deletion was De Novo). Best of luck!

We had genetic counseling as part of our RPL testing and there was no reason to suspect any hereditary traits.  The Sequential Screening does have us meet with the genetic counselor at the local MFM office though.  My fear is that this pregnancy will have a Trisomy and result in a later term loss that I could have screened for early on (even if that is irrational it's my fear).  I'm not sure what the genetic counselor can do for us until we have results back?  Maybe that's me being naive?  What can they do for us?!?!?  

My loss was due to T13 that was picked up at the NT scan with a measurement of 6.5. I then did the blood test and a CVS to be 100% sure of the results. I would definitely get a genetic counselor. They know way more than your OB will about all the testing available, the odds and accuracy and what next steps are best. They will be able to answer all your questions. Plus, they can get the insurance approval and testing results sooner. 

If you are worried about a Trisomy I would say do the blood test first with an NT scan. (this is based solely on personal experience) It's noninvasive and very accurate. From there you can chose to do additional testing if you wish or based on results. Plus, the blood test can be done as early as 10 weeks!

I go in next week to my genetic counselor, the one who helped us through our first diagnosis, and I cannot rave enough about her. I completely understand your fear of having another trisomy and late term loss. With an slightly higher risk there is nothing that can calm my fear until I get the blood test done. 

I hope this helps! But i can not express how much I believe a genetic counselor is way better than an OB for these types of things.