Genetic testing?

amyjay23

Hi all,

My OB talked with me about a couple of options with genetic testing.  CVS testing, and amniocentesis.  Based off of the descriptions the only one I would really even consider at this point is the CVS, but I'm wondering if anyone has had them, would recommend them, or thinks they're not necessary.  I couldn't get a read on if they are "routine" or if they are something I can skip.  I will definitely talk more to my OB- I have an appointment next week, just thought hearing from some other Moms to be might help.  

Thanks! 

orangecurls

I've done the first trimester screen, which involves a blood test and ultrasound. And because I'm over 35, my insurance pays for the harmony blood screen (also called maternit21, panorama, verifi). Cvs and amnio is more invasive, so I'll consider only if necessary. I would check into the harmony screen, see what your insurance covers.

taahira

If you are over 35 most insurance company's pay for the harmony test (verfi, maternit21) which is only a simple blood test. I had this test done.
I wouldn't have cvs unless my results showed there was something wrong. It is far more invasive. Calling your insurance is the best place to start, as not everything is covered and can be quite pricey. Good luck!!

babybuckley

With my 1st pregnancy, I had a blood screening done. With several cases of autism in my family, I thought I should definitely get tested. My blood screen came back with a possible positive result for Down Syndrome. I was given an appt with a genetics counselor who let me in on a piece of information I wish I had known sooner. Most genetic mutations come from the mother. All the cases in my family are with my brothers children. If I had known that from the beginning, I may not have gotten tested in the first place. After having a thorough ultrasound done, they told us that everything looked good but of course they couldn't rule anything out (for legal reasons they will not tell you that everything is fine).So they put us through months of worrying with a "maybe" type of answer until our son was born and we could see that he did not have it. (I refused an amnio because they are so invasive).

So if you are worried because you have cases in your family, are they from your brothers children or your sisters? If they are from your sisters, it might be worth checking out. My opinion may be different if I was given a definite yes or no, but being left in limbo for the entire pregnancy was gut wrenching.

jogirls2

i had a CVS test done this friday, but this is my third pregnancy and my third CVS.  My husband and i are both carriers for cystic fibrosis so we are screening for that.  Why did your doctor suggest this to you?  Also will find out the sex when results come back... praying for a healthy baby!

good luck!

PrimRoseMama

RedheadBaker said:

Most insurance plans won't cover them unless you're considered high risk. Find out how much you'd need to pay out of pocket.

Personally, I believe the more knowledge, the better. If my baby had a genetic abnormality, I'd want to make sure the hospital was equipped to handle it, and have those months before birth to educate myself, find specialists and support groups.

Agree.

momthatlifts

I agree with @emmgy65. The amnio is only offered at my clinic if other tests come back showing high risk. Then you have the option to test further. There are a few other tests I would ask them about before doing an amnio. I did a quad screen at 18 weeks. I was very happy I did.

jewely24

I was offered the harmony test since I will be over 35 when I delivered. We declined it at this point since we would not terminate the pregnancy if we found something. If markers are found on any subsequent ultrasounds we will probably change our minds since at that point it would be more about treatment options and preparedness. I just didn't want the extra worry and anxiety when at this point there wasn't much I could do. Neither of us have any genetic illnesses in our families we were concerned about though. My midwife said that more mothers than not decline it in the first tri...

jewely24

@NariaDreaming‌, my midwife assured me that even if anything was found, there wasn't much we could do right now (only 7 weeks) for me or for the baby besides wait and see what later tests and ultrasounds showed. The anxiety I would feel until then isn't worth it to me when there isn't anything I can do to "help" it or "fix" it. It's definitely a very personal decision and one I didn't take lightly. Just my opinion and not gospel or right for everyone by any means....

blush64

As far as the Harmony test, maybe it depends on where you are. I am in Ontario and it is considered a screening test here not diagnostic.

Edit I agree with PP, Amnio and CVS are not routine. I would ask about screening tests before even thinking about anything else.

jewely24

RedheadBaker said:

jewely24 said:

@NariaDreaming‌, my midwife assured me that even if anything was found, there wasn't much we could do right now (only 7 weeks) for me or for the baby besides wait and see what later tests and ultrasounds showed. The anxiety I would feel until then isn't worth it to me when there isn't anything I can do to "help" it or "fix" it. It's definitely a very personal decision and one I didn't take lightly. Just my opinion and not gospel or right for everyone by any means....

Your midwife sounds really uneducated about the Harmony test. For one thing, the earliest you can have the test done is 10 weeks. For another thing, Harmony is considered diagnostic, not a a screening test. 

jewely24

I'm very confident in my midwife's abilities, whether you are or not is irrelevant. She did not say that I could have it at 7 weeks, but mentioned it at my initial interview appt as something that was available to me. Something MH and I chose, at this point, not to go ahead with. Lots of people choose differently, and that their choice.

ETA: Even the Harmony website does not call it a diagnostic test, it clearly states it is used for risk assessment, and while it is highly accurate, I would still consider that a screening...

bashfulbird

I have an appointment for the genetic counseling in two weeks. Can anyone here tell me what they will do? Are they going to take blood then or just talk about the options and send me  to a lab? As of last night DH and I had thought we were going to opt out but the "gentle PSA regarding genetic testing" thread has caused me to consider the benefit of the medical provider knowing about special needs before delivery. I have been getting stressed about being stressed by results, but I have a feeling I will be stressed by the not knowing. The one thing we know is that it is out of our hands but having the medical professionals be informed is an advantage.
On the flip side I don't want to build a foundation on this belief that is based on a false positive. I believe that what we think shapes our environment and I also believe that our medical system over diagnoses healthy people into feeling sick.

bashfulbird

I did it, and I hope that it is not just a 30minute explanation of the tests. Its an hour drive to the office I just don't want to have to make a return trip just to draw blood. I will take your suggestion and confirm the object of the appoint IF i decide to keep the appt.