"High risk" for trisomy 21-- what should I ask/ consider

[mom2beofboy/girltwins]

I had to undergo CVS because of some complications with triplets. My doctor recommended I go see Dr. Mark Evans in New York because he was exceptionally experienced and one of the only people who could turn sample results around the next day. I can't recall the time frame limitations but I went at about 12 weeks. I live in Florida but was willing to travel in order to have the most experience with the lowest possible risk. You also meet with a genetic specialist at his office when you go there. His website is below. The biggest thing I can recommend is to try and get your insurance to preapprove the procedure because he is not in any insurance network. He will provide you with everything you need to file the claim after the procedure but I had issues with my insurance denying the claim completely because he was "out of network" even though Cvs was a covered expense and they didn't have any IN network Providers that could perform Cvs. Go figure.


It was a hard decision to make to go thru with but turned out to be the right decision. HTH.


http://www.compregen.com/



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[Puddy73]

There are actually three different labs offering the blood test (Harmony, Verifi and Maternit21), so your insurance may cover one but not the other depending on your preferred lab. Harmony is processed by LabOne, I think. One caveat about the blood test: it is not uncommon for the sample to produce no result, especially early in the pregnancy. My samples were tested twice by Maternit21 with no result (insufficient fetal DNA) and once by Harmony with no result. I finally got a result(positive) on my second sample with the Harmony test. Each sample takes 7-14 days to process. If termination is an option for you, you may wish to go directly to CVS or amnio, because you can get FISH results in three days. Sending you big hugs - it is a nerve-wracking time. Feel free to PM me. I gathered a ton of information while going through the process.

[kdeunc]

With DD I had results very similar to your's (1/49). I opted to do amnio at 16 weeks. It was the longest 5 weeks of my life. If I had the opportunity to do it again I would have chosen to go with CVS. DD's amnio results were normal but it was a super stressful time for me. I definitely learned that I would rather know sooner rather than spend the time speculating and worrying. Best of luck to you with your decision and your pregnancy.

[Snow mom]

Just to update: I had what was probably the longest meeting I've ever had with a doctor today. We discussed the blood testing and CVS in detail. There isn't much demand for CVS here apparently and none of the local doctors do any volume in the procedure. I didn't even get practice specific risks because the number per year is so low that it doesn't mean much. She offered to refer me to Houston but ultimately I did decide to go with the blood test. I wouldn't call the blood draw quick and painless but I think I just have bad luck (and bad veins). So now I'm waiting and hoping that the volume of blood they got will be enough to run the test. And of course hoping for good news. I should get the results at around 14.5 weeks so at that point waiting for an amnio, if necessary, will be less of a wait.

Thanks to all who shared resources, ideas, stories, etc.

[Fairy]

Wishing you a very good outcome.

[hopeful_mama]

We did the Harmony test as well as the 1st trimester screening, as we were concerned due to age. [My OB and the hospital MFM practice that did the test both preferred Harmony over MaterniT21.] We got the 1st tri results after sending out the bloodwork for Harmony, and they weren't too concerning, 1 in 560 risk for Downs, better for trisomy 18, but when the Harmony results came back they were so much better, less than 1 in 10,000 for all three trisomies they tested. I don't know which test you took, but I went in for the Harmony bloodwork on a Tuesday afternoon and got my results the following Wednesday, just to give you an idea of the timeline (and the sample was presumably sent to the opposite coast so yours may even be shorter).

Our experience was really reassuring and I hope yours is as well. Best wishes.