Genetic Testing

[Green12]

I don't know if this is the appropriate category to post this or not, sorry mods if it isn't.

I am curious about how to go about getting genetic testing before getting pregnant? How is this done? Do they test for a myriad of things or one thing at a time ? Do they take blood, or is something more invasive involved?

Any information would be greatly appreciated.

[Alexandra]

I don't know if this is the appropriate category to post this or not, sorry mods if it isn't.

I am curious about how to go about getting genetic testing before getting pregnant? How is this done? Do they test for a myriad of things or one thing at a time ? Do they take blood, or is something more invasive involved?

Any information would be greatly appreciated.

Julie,

I got tested for cystic fibrosis before I started ttc, and that was just a blood test. However, I'm not sure if this is true of all genetic tests, or only some.

I know some conditions can be passed along by either parent, while others require a gene from both parents. CF is "both," so once we'd learned that I didn't carry the gene my DH did not need to get tested. In contrast, obviously some things can be passed along from either side, so if they are a concern you would both need to get tested.

Hopefully you won't need to know this, but to open a whole 'nuther can of worms, if you have a condition you might pass along and want to make sure not to, it is possible to use IVF with something called PGD (Pre-implantation Genetic Diagnosis) to try to select embryos that do not have the condition. As you probably know, IVF involves creating embryos outside your body after surgically retrieving eggs; the embryos can then be tested for at least some things, once they reach about the 8-cell stage, by removing one cell and examining its DNA. For what I assume are obvious reasons, this practice is controversial, but it is both possible and legal, at least in the US and can be used to select which embryo to transfer back to the uterus in hopes that it will implant and develop.

I think all these issues are fairly complicated (which tests to get, what they involve, who needs to get them, what to do with the information), so it's probably a good idea to consult a well-trained genetic counselor if this is something you are considering.

-- Alexandra

[Green12]

Julie,

I got tested for cystic fibrosis before I started ttc, and that was just a blood test. However, I'm not sure if this is true of all genetic tests, or only some.

I know some conditions can be passed along by either parent, while others require a gene from both parents. CF is "both," so once we'd learned that I didn't carry the gene my DH did not need to get tested. In contrast, obviously some things can be passed along from either side, so if they are a concern you would both need to get tested.

Hopefully you won't need to know this, but to open a whole 'nuther can of worms, if you have a condition you might pass along and want to make sure not to, it is possible to use IVF with something called PGD (Pre-implantation Genetic Diagnosis) to try to select embryos that do not have the condition. As you probably know, IVF involves creating embryos outside your body after surgically retrieving eggs; the embryos can then be tested for at least some things, once they reach about the 8-cell stage, by removing one cell and examining its DNA. For what I assume are obvious reasons, this practice is controversial, but it is both possible and legal, at least in the US and can be used to select which embryo to transfer back to the uterus in hopes that it will implant and develop.

I think all these issues are fairly complicated (which tests to get, what they involve, who needs to get them, what to do with the information), so it's probably a good idea to consult a well-trained genetic counselor if this is something you are considering.

-- Alexandra

Thanks Alexandra, very informative post.

So if I knew that I might possibly have a condition that is hereditary, and that I am concerned about it, I need to consult a genetics counselor before ttc? Are they affiliated with Ob/gyn doctors, or a totally different branch? If you can't tell I have lots of questions and not sure of really what to make of it all.

[Guest schmenge]

We had the kids tested and it was just a blood sample that was needed. My GI said to tell our family doctor that we wanted a "xyz test" (I can't recall the name) and that's all it took.

[imsohungry]

Hi Julie...it's me, Julie (my account got all funkie-fied, so I've got to fix it, but it's still me)

Anyway, to address your question, I had both genetic testing and genetic counseling. Because I have health problems, my insurance covered the genetic counselor visit! You may want to check with your insurance plan to make sure you're covered. My PPO covered me b/c of my Celiac, etc. So, it is definitely worth checking out!

I went for a consultation with a high-risk OBGYN and she ran some basic blood tests for certain genetic diseases (as others have posted about earlier in their response), and then I went to the genetic counselor with my (and my hubby's) family tree and health info. She really put my mind at ease. At least if my child did end up with a genetic disorder, I knew that I had done everything in my power to prevent it or at least make an educated choice about becoming pregnant. Ya know what I mean?

Keep asking questions! I asked a million of them before I finally decided to "take the plunge" into motherhood!

Blessings! -Jules

[Green12]

Hi Julie...it's me, Julie (my account got all funkie-fied, so I've got to fix it, but it's still me)

Anyway, to address your question, I had both genetic testing and genetic counseling. Because I have health problems, my insurance covered the genetic counselor visit! You may want to check with your insurance plan to make sure you're covered. My PPO covered me b/c of my Celiac, etc. So, it is definitely worth checking out!

I went for a consultation with a high-risk OBGYN and she ran some basic blood tests for certain genetic diseases (as others have posted about earlier in their response), and then I went to the genetic counselor with my (and my hubby's) family tree and health info. She really put my mind at ease. At least if my child did end up with a genetic disorder, I knew that I had done everything in my power to prevent it or at least make an educated choice about becoming pregnant. Ya know what I mean?

Keep asking questions! I asked a million of them before I finally decided to "take the plunge" into motherhood!

Blessings! -Jules

Hi Julie Jules

I can never forget your nickname "imsohungry", I can so relate

Thanks for your reply, this is really helpful! And thanks for sharing your experience. You've given me a great place to get started, I will check into everything you suggested and for sure keep asking questions!

[imsohungry]

I can never forget your nickname "imsohungry", I can so relate

HA! My screen name was chosen out of desparation! When I came to this site several years ago and started posting, I had eaten nothing but "Amy's meals" since being diagnosed. I was literally eating cheese enchilladas for breakfast! (ya wanna talk about having gas at 8:00 in the morning...it only takes about a week of bean and cheese enchiladas for breakfast, lunch, and dinner before I felt like exploding!!!!) I even wrote the "Amy's" company and thanked them for keeping me alive until I better understood my diagnosis! And then I came here to celiac.com ...admitted I had an enchilada problem, went through a bean detox, and the rest is history!

(I'm a bit goofy today...inhaling the fumes of one-to-many poopy diapers)

Blessings to ya Jewels. -Jules