Did you get genetic testing before trying to conceive?

[Anonymous]

My friend randomly found out that she and her husband are second or third cousins this way - after having a baby with a very rare disease.

[Anonymous]

Anonymous wrote:Yes and yes. It was offered by my OB when I went in for preconception counseling. It tested for like 500 recessive genes. I think it was the Counsyl test.

One thing to be aware of - most people are carriers for a couple. That is NBD. Assuming that’s how your test results come back, they just do the same test for your husband, and as long as he isn’t a carrier for the same ones, you’re fine.

This is mostly true. There are some conditions that can be passed down with matching with both parents (this is called x-linked recessive inheritance).

I know this because we did genetic testing, didn’t match on anything, and my son has an x-linked inherited condition. I did pop up as a carrier for this in the testing, but his condition is so rare that the genetic counselors didn’t realize that my husband and I didn’t need to match for it to be inherited. There are other x-linked conditions that are more well-known and the counselors will catch if they arise.

[Anonymous]

We did and then we proceeded to IVF.

[Anonymous]

I did, but I’m not sure if I would have qualified for insurance coverage if I hadn’t been already pursuing a diagnosis for a genetic disorder.

[Anonymous]

Yes, for CF since as a white person that's the only one they worry about. Later I had a lot more done due to losses. Nothing was found in that.

[Anonymous]

No, but don't kid yourself. YOu can still have a kid with SN. There is no screening tool for de novo problems.

[Anonymous]

DH and I are both Ashkenazi Jewish so we did the “Jewish Panel” (not sure if there’s another technical term for it). The doctor mentioned it during a preconception consult type meeting.

[Anonymous]

Yes Ashkenazi jew here and "geriatric" paid cash no problems happy babies happy parents

[Anonymous]

Yes. My sibling has an inherited genetic disorder that is inherited in a recessive/recessive pattern (both parents have to be carriers and both have to pass it on). We tried to see if my partner was a carrier for it first (because I was a 50/50 chance at being a carrier). We could not get anyone to order it for him. My OB wouldn't, until after I'd had the testing. And he could not get his primary care physician to do it, either. In the end, we tested me first and I was a carrier. We then tested him and he wasn't a carrier for anything. So basically, if we'd tested him first, that's the only test we would have needed. So frustrating.

I think it was cheaper to pay for it without insurance (based on the pricing on the website for the group that did it) than with, because US healthcare is so messed up. And it's not like we had cheap insurance. It was worth the peace of mind--if my husband was a carrier too, we would've done IVF to screen for it. I recall it being about $500 a person or so. Insurance might have covered mine; it's been a while.

[Anonymous]

My husband has obstructive azoospermia. He was tested only for cystic fibrosis. Did not have it. I didn't get any testing. 3 healthy kids

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:Before you do these kinds of tests, you should consider what you are actually going to do with the information.

If you and your spouse are both carriers of the same problematic recessive genes, are you going to not have children? Would you use a sperm donor?

If either of those things are out, what’s the point in doing the testing?

The major option being ignored here is IVF — if people can afford it that would generally be the path people take if they test positive for both parents.

To answer the question from OP, yes we did through our OB during the pre conception appointment. Had we tested positive we would have done IVF with embryo testing and moved forward with that vs conceiving naturally. Insurance did cover it, but we have Progyny vs normal insurance.

Following this to its logical conclusion, the ethical implications are catastrophic. It suggests that individuals in less than ideal health are somehow lesser human beings. As more people choose "designer babies," it will obviously lead to the conclusion that those who become disabled, old, or just sick are…what? encouraged to end their lives? This is a terrifying path.

We’re not talking about eye color here. This is about avoiding cystic fibrosis.

…quite literally the whole point. Are people with cystic fibrosis not supposed to be alive? You’re not deciding between “Johnny with cystic fibrosis or Johnny without cystic fibrosis”… you’re deciding whether Johnny should be alive, moron.

You have zero right to tell other people what they should be doing with their gametes.

[Anonymous]

Anonymous wrote:

Anonymous wrote:Yes and yes. It was offered by my OB when I went in for preconception counseling. It tested for like 500 recessive genes. I think it was the Counsyl test.

One thing to be aware of - most people are carriers for a couple. That is NBD. Assuming that’s how your test results come back, they just do the same test for your husband, and as long as he isn’t a carrier for the same ones, you’re fine.

This is mostly true. There are some conditions that can be passed down with matching with both parents (this is called x-linked recessive inheritance).

I know this because we did genetic testing, didn’t match on anything, and my son has an x-linked inherited condition. I did pop up as a carrier for this in the testing, but his condition is so rare that the genetic counselors didn’t realize that my husband and I didn’t need to match for it to be inherited. There are other x-linked conditions that are more well-known and the counselors will catch if they arise.

Huh?! It is well know women are carriers for X linked diseases that are expressed in their sons. Women have an extra X chromosome that has a copy of the good gene. Either I forgot my genetics, you are mis-interpretting, or your counsellor is grossly incompetent and should be sued.

[Anonymous]

No, you are misinterpreting what I said. I said my son’s condition was rare, not all X-linked conditions. And I was offering additional information to the poster that said that partners need to match for a condition to be inherited.

And no, I don’t need to sue the genetic counselors. There are variations of my son’s condition that are not x-linked depending on the gene it is on, and the number of people worldwide who are known to have the condition including all gene variations is in the hundreds. I don’t fault the pre-conception genetic counselors considering the high-level testing and analysis we needed to have done for diagnosis.