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BR: genetic screening/testing
I am not quite ready to make the transition to the Bump yet, but DH and I are thinking about starting to TTC at the end of this year (which is coming up way too soon, eek!). My sister had genetic screening done when she was pregnant and found out that she is a carrier for CF, which means that I may be as well. I would also like to get screened for Tay-Sachs, since DH and I are both of Ashkenazi descent (and I watched a video on Tay-Sachs in college biology that scared the bejeebus out of me).
For those of you who did genetic screening or testing (I am not 100 percent sure that I understand the difference), how does one go about doing this? Would I just tell my ob/gyn that I'd like to have the tests done, and then she orders the bloodwork? If DH subsequently needs to be tested, does he have to go to his own doctor? Did your insurance cover the tests, and if not, approximately how much did it cost? We have BCBS Standard, which apparently covers "testing" but not "screening." Anything else I should know or consider?
I'd really prefer not to ask my sister any of this, since she will likely tell our mother that DH and I are thinking of TTC, and my mother will then drive me batsh!tcrazy until I deliver a grandchild. TIA!
Baby248 - ETA 1/10/13
Re: BR: genetic screening/testing
I'm pretty sure that if you tell your doctor that your sister is a carrier for CF and you and your husband are of Ashkenazi descent, they will automatically run those tests for you. They'll ask all those questions when you first come in. Your insurance should cover it--we have the same insurance and they covered all our testing.
(I think testing vs. screening might mean they will test once you get pregnant but not ahead of time? I could be wrong.)
TTC #2: BFP 12/17/11, m/c 1/7/12 and D&C 1/12/12
baby blog/cooking blog
i don't have any advice but the statement about your mom made me laugh! oh parents!
ditto this, our testing was done through shady grove since it was required. (i think) if you have obvious risk factors, i would just tell your OB and i'm sure they will order the tests anyway.
if you call the OB's office and ask them for the billing codes for the procedure(s), you can call your insurance company and ask them specifically if that is covered. i had to do that a lot both with infertility treatments and then once i was pregnant. don't trust any generic answer an insurance rep gives you over the phone without using procedure codes or that your doctors office will make sure something is covered before it's done.
If you're not already seeing an OB/gyn, make an appt. for a discussion and screening. I too wanted to be screened (and was) before TTC.
If I remember correctly (this was back in 2007), we discussed that DH would go to his own Dr. for screening if I had been positive. I am RH negative, and DH did have to go to his PCP for that bloodwork to see if he was as well.
My insurance (Cigna) did cover the screening, so i'm no help there.
I'm not sure it's automatic - I don't remember being screened for Tay-Sachs, though I also don't remember volunteering anything about our ethnic background. (But, then again, it was almost three years ago and I have no memory of many, many things anymore.)
Very smart of you to do this before TTC!
I did not do any testing before TTC and the thought never crossed my mind. We did the NT scan while I was pregnant and the Dr there convinced me to do the "Jewish Blood Panel," basically what you are describing. DH is not Jewish. I ended up testing as a carrier for familial dysautonomia (FD), also known as Riley-Day Syndrome, which is this horrible disease where the baby basically dies w/n the 1st year. So then DH went to our family Dr and got tested. It took 2 weeks to get the results, talk about the 2 longest weeks of my life!! He was negative. Someday, we'll test our kids as they are likely carriers. My sister's husband is also Jewish so I have told her about this and recommended they both get tested before they TTC.
The Jewish Blood Panel is really expensive, something like $25k!! But my insurance covered it. I am not sure if they would have if I was not pregnant.
I would just have you tested 1st and if you test as a carrier for something, have your DH tested just for that.
And feel free to come over to thebump, we don't bite
I promise
At my initial pregnancy appointment I had to fill out a ton of paperwork and some asked about my and DH's backgrounds to determine if we might be carriers and therefore they should run specific blood tests. I think that's pretty standard most places.
One thing to be aware of - make sure you find out your results before you have DH take any tests, and he likely has to be tested by his own doctor. Unfortunately a friend of mine's OB tested her and her hubby at the same time since he was there - she ended up being stuck with a huge bill because insurance wouldn't cover his tests. If she had tested positive for something and he needed to be tested to rule out the issue (and was tested by his own doc) it would have been covered.
GL!
you could look into the testing but check with insurance - when I worked in OB not many people tested before hand - but I think its more of they didn't know the option was available to them - they thought they had to be pregnant to qualify
would you look into BRAC testing too ? ( I only ask because you say you are of Ashkenazi Jew decent )
Thanks so much for all of the feedback, I really appreciate it! I'll go ahead and call my ob/gyn to set up an appointment sometime soon (and we'll worry about DH when/if the time comes). Good call on getting the specific billing codes, I wouldn't have thought of that.
Sofka, I'd never heard of FD - that's scary stuff! I'm glad it didn't end up being an issue for your children, and hopefully it won't be for theirs either.
Baby248 - ETA 1/10/13
I got tested for CF at my preconception appointment. I had to pay $25 for the testing. It's unclear whether BCBS paid the rest, or if the $25 was a contracted rate my ob/gyn's office had reached with this lab.
The ob/gyn sent my blood to an out-of-state lab, which apparently tested it for CF and some other stuff. When I got the explanation of benefits, BCBS had paid for some line items but not others (saying that the medical records did not support that the procedure had been performed); the out-of-state lab resubmitted, was redenied, and then billed me $25. I called my ob/gyn's office trying to find out WTF was going on (as I didn't want to pay for something when the EOB made it sound like it looked like whatever they were billing me for wasn't done), and as soon as I said I had a question with regard to this lab, she said, "Is it for CF screening? Because they aren't allowed to charge you more than $25." I ultimately just paid the $25, as I couldn't get a straight answer from my doctor, insurance company, or the lab about what was going on and whether it should have been covered in full.
I tested positive at 11 weeks as a CF carrier. I wish I'd done the testing in advance like you did. Once I tested, my OB wrote the orders for my DH to go straight to the lab (my doc's office is adjacent to Virginia Hospital Center) and since he was with me, he had it done straight away. He was positive too and we had to go get a CVS test with a specialist but luckily - baby is negative and not even a carrier!
I think you're really smart thinking ahead - your OB should be able to give you further instructions if your DH needs any testing.