Genetic Testing before TTC?

[Anonymous]

It's not a big deal, but a good idea to be tested for diseases in your ethnic/ancestral group that are more common. If you are a carrier, then they will test your husband. Ideally this should be done before pregnancy so that in case you are both carriers (very low risk of this), you can consider PGD.

[Anonymous]

Anonymous wrote:It's not a big deal, but a good idea to be tested for diseases in your ethnic/ancestral group that are more common. If you are a carrier, then they will test your husband. Ideally this should be done before pregnancy so that in case you are both carriers (very low risk of this), you can consider PGD.

Yes I am actually going in to do the testing in a few days. I am going to do all the tests that can be covered now under insurance. For some of them...even based on my background they will not be covered until I am pregnant? So weird! So I am holding off on a few of them but will have the others done beforehand just for peace of mind.

Thanks again for all the information!

[Anonymous]

Cystic Fibrosis is really common too amongst white populations (1 in 30 is a carrier and usually there is no family history).

A lot of practices are proactively testing now so as not to have any surprises out there.

[Anonymous]

I did it. Wanted to have all bases covered to the extent that I can. No family history of anything, but I've had enough random stuff happen, I no longer think it can't happen to me. I did the Counsyl test, which is excellent and only$100. I would recommend that anyone consider it.

[Anonymous]

I did the cystic fibrosis genetic test prior to pregnancy.

What I find annoying is my insurance would only pay after conception. If I am a carrier, it would be better to know prior to a pregnancy.

[Anonymous]

I would have them done. I think the news that you and your husband are both carriers of something (I.e., Thalassemia)would be much easier to handle before actually being pregnant. I can't imagine going in at 8 or 10 weeks and finding out then. Do you mind sharing who your OB is?

[Anonymous]

Anonymous wrote:I did the cystic fibrosis genetic test prior to pregnancy.

What I find annoying is my insurance would only pay after conception. If I am a carrier, it would be better to know prior to a pregnancy.

Yes, I am waiting for the cystic fibrosis test and another until I become pregnant. I cannot pay $1500 for the cystic test right now. I do find it ridiculous that you have to wait for it to be covered when pregnant. It makes absolutely no sense...whats the difference. Oh well.

[Anonymous]

Anonymous wrote:I did it. Wanted to have all bases covered to the extent that I can. No family history of anything, but I've had enough random stuff happen, I no longer think it can't happen to me. I did the Counsyl test, which is excellent and only$100. I would recommend that anyone consider it.

OP here, I just did the Counsyl test and had blood work done. So I am glad to know it was worth it! However, Counsyl does not cover Cystic Fibrosis I believe and Tay Sachs. So those will be done afterwards.

[Anonymous]

I think it is wise to wait to test until pregnant if you don't need to do IVF. It is unlikely that both you and your husband are carriers unless a family history. And would you really do IVF + PGD if you didn't need to get pregnant? Even if you are carriers you have a 75% chance of an unaffected child.

[Anonymous]

I was talking about TTC with my doctor at my annual last week, and she offered to do a "prenatal panel" of blood work. Turns out I am a carrier for Cystic Fibrosis, which never would have occurred to me (no instances of CF in my family that I know of). My husband just got his blood work done, so we're waiting to find out if he's a carrier or not. Very glad to be doing it now and not while pregnant!

[Anonymous]

"OP here, I just did the Counsyl test and had blood work done. So I am glad to know it was worth it! However, Counsyl does not cover Cystic Fibrosis I believe and Tay Sachs. So those will be done afterwards."

I'm a genetic counselor with Counsyl. I'm so glad you took our test. We really believe in helping couples learn this information early on, when there are ample family planning options. Just to clarify, the Counsyl test does include cystic fibrosis (100 mutations) and DNA testing for Tay-Sachs disease. Most couples have no family history of any of the conditions on our panel, so TTC is a good time to do it.
Good luck! I remember when I was TTC, and five years later, I am a mom to two precious girls.

Best,
Shivani

[Anonymous]

Anonymous wrote:"OP here, I just did the Counsyl test and had blood work done. So I am glad to know it was worth it! However, Counsyl does not cover Cystic Fibrosis I believe and Tay Sachs. So those will be done afterwards."

I'm a genetic counselor with Counsyl. I'm so glad you took our test. We really believe in helping couples learn this information early on, when there are ample family planning options. Just to clarify, the Counsyl test does include cystic fibrosis (100 mutations) and DNA testing for Tay-Sachs disease. Most couples have no family history of any of the conditions on our panel, so TTC is a good time to do it.
Good luck! I remember when I was TTC, and five years later, I am a mom to two precious girls.

Best,
Shivani

OP here. Thats funny this thread just came up on my lunch break!

Yes I was wrong about the Cystic fibrosis. However my OB told me that only 95% of Tay Sachs is covered with Counsyl, something about enzymes not being included. And therefore, I need to get the other 5% done because of my background at a lab. Now I assume that if the 95% portion came back negative I am good, but they want to know 100% and I understand that.

Is this incorrect about the 100% of Tay Sachs not being covered by Counsyl?

Thanks for responding to the thread!

[Anonymous]

"However my OB told me that only 95% of Tay Sachs is covered with Counsyl, something about enzymes not being included."

Your OB is correct. DNA testing for Tay-Sachs combined with enzyme analysis is the most sensitive way to ascertain your carrier status. Hurray for choosing a good OB.

[Anonymous]

Anonymous wrote:"However my OB told me that only 95% of Tay Sachs is covered with Counsyl, something about enzymes not being included."

Your OB is correct. DNA testing for Tay-Sachs combined with enzyme analysis is the most sensitive way to ascertain your carrier status. Hurray for choosing a good OB.

LOL, yay! Thanks for the information Shivani! Have a great day!

[Anonymous]

Anonymous wrote:

Anonymous wrote:I did the cystic fibrosis genetic test prior to pregnancy.

What I find annoying is my insurance would only pay after conception. If I am a carrier, it would be better to know prior to a pregnancy.

Yes, I am waiting for the cystic fibrosis test and another until I become pregnant. I cannot pay $1500 for the cystic test right now. I do find it ridiculous that you have to wait for it to be covered when pregnant. It makes absolutely no sense...whats the difference. Oh well.

I paid a little over $500 for the test at Georgetown. That included the consult with the counselor. It was not the minimum panel they recommended. Who's telling you it's $1500?