Did you get genetic testing before trying to conceive?

[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.

[Anonymous]

We are both Jewish and did Natera and they messed it up. We asked a dozen times and provided a prescription for them to only test my husband for what I had, and they tested him for everything and did not even order the panel specifically for Ashkenazic Jews. As such, one of the things I carry he did not get tested for. Then they somehow uploaded his results to my profile and deleted mine (luckily I had mine saved).

It was a complete nightmare. In addition, during my required genetic screening meeting to discuss my results, the geneticist informed me that I was also at a higher risk of Parkinson’s based NOT on my ethnicity or family history but because I was a carrier of something. My grandmother has parkinson’s. So you can imagine how that made me feel—like yeah, I carry this disease associated with Jews and also associated with parkinson’s which is also associated with Jews. Connect the dots. I’ve gotten over it but it does make parkinson’s feel like an inevitability.

I was super pissed they informed me of that; I’d chosen to do Natera and not 23 and me or something similar explicitly to avoid being told that I was more likely to get xyz. This was ultimately the reason why my husband requested to only get screened for what I tested positive.

Anyways, I’m still pretty mad about it, three years later.

[Anonymous]

Yes. Insurance covered, referral from obgyn. Counsyl test (sp.).

[Anonymous]

Yes we did it because our fertility clinic highly recommended. It was covered by insurance. Natera IIRC.

[Anonymous]

No, because it wouldn't change our outcome.

[Anonymous]

No. But, the medical history was pretty grim. Both of us were in our 20s.

Between DH and I, family medical history had - hypertension, heart disease, stroke, diabetes, high cholesterol, arthritis, alcoholism, gout, various kinds of cancers, macular degeneration, cataracts, nerve damage, peripheral artery disease, blindness, dementia, personality disorders, anxiety, depression.

[Anonymous]

Nowadays if I wanted children and my fiancee did too, we would test before marriage. Getting ready for TTC is no time to find out stuff imo.

[Anonymous]

Anonymous wrote:We are both Jewish and did Natera and they messed it up. We asked a dozen times and provided a prescription for them to only test my husband for what I had, and they tested him for everything and did not even order the panel specifically for Ashkenazic Jews. As such, one of the things I carry he did not get tested for. Then they somehow uploaded his results to my profile and deleted mine (luckily I had mine saved).

It was a complete nightmare. In addition, during my required genetic screening meeting to discuss my results, the geneticist informed me that I was also at a higher risk of Parkinson’s based NOT on my ethnicity or family history but because I was a carrier of something. My grandmother has parkinson’s. So you can imagine how that made me feel—like yeah, I carry this disease associated with Jews and also associated with parkinson’s which is also associated with Jews. Connect the dots. I’ve gotten over it but it does make parkinson’s feel like an inevitability.

I was super pissed they informed me of that; I’d chosen to do Natera and not 23 and me or something similar explicitly to avoid being told that I was more likely to get xyz. This was ultimately the reason why my husband requested to only get screened for what I tested positive.

Anyways, I’m still pretty mad about it, three years later.

Other than the funny business with the uplaoding and deleting etc. not understanding why you are mad????

[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.

Huh? They test the embryos before they implant them. These are not even fetuses

I am religious and am convinced that Johnnys soul will still be the same, you’re just choosing the embryo for it.

I would test if you’re similar genetic backgrounds or if there’s anyone with a genetic disease in your family.

[Anonymous]

Anonymous wrote:No. But, the medical history was pretty grim. Both of us were in our 20s.

Between DH and I, family medical history had - hypertension, heart disease, stroke, diabetes, high cholesterol, arthritis, alcoholism, gout, various kinds of cancers, macular degeneration, cataracts, nerve damage, peripheral artery disease, blindness, dementia, personality disorders, anxiety, depression.

However not the things people are testing for! We’re talking about spina bifida, tay sachs, cystic fibrosis.

[Anonymous]

We did counsyl when having our daughter who just turned 13. Unfortunately, my gyn stopped being an OB and hasn’t suggested testing (we’d been TTC for a while). I found my new doctor at about 12 weeks. His practice had just started offering Consyl - I think our portion was about $100 per person. Because it was so new, I was the first patient he’d had that chose to do the testing. I believe it’s super quick now, but back then it took 3-5 weeks to get results.

I got tested right away (13 weeks) and found out at my next appointment (17 weeks) that they’d mislabeled my bloodwork. I got retested and got a call at about 21 weeks that I was a carrier for 3 things (Gaucher disease and two mutations in amino acids.) Each could have grave consequences (such as high risk of still birth; painful / slow death for child etc). For example, if I remember correctly, one very rarely leads to live birth but, if it does, it causes severe problems with the bones and typically leads to suffocation by the 3rd birthday.

So we rushed my husband in to get tested for the 3 things I carried and my doctor contacted the company to see if they could rush us, but even so we didn’t know we were in the clear until somewhere around week 23 which is pushing the limits on when we would consider abortion (but we didn’t want me to go through a full term still birth delivery or to have a baby suffocate).

We considered an amnio but the risks of miscarriage from that or the risk my husband had the any of the same mutations were about the same (I think about 1:200).

So we waited and, fortunately, he doesn’t carry any of the same mutations as I do.

Interestingly, my only known ancestry at the time was English / Scottish / Irish / welsh and German. But the results suggested I had Eastern European and / or Mediterranean ancestry and Swedish ancestry (one of the mutations tends to be more common among Swedes). Family research I did a few years ago of just my mom’s side confirms a much more varied background than i knew of.

[Anonymous]

My husband and I are both Jewish, so we did get tested via Jscreen. Unfortunately they messed up his results—they were supposed to only test him for what I had (he has some health anxiety) and instead Myriad somehow ran the full, non-Ashkenazic panel on him. This actually skipped one thing I carry.

Three things we learned from this:
1. don’t do anything cute, these companies aren’t smart enough.
2. Jscreen tests for WAY more than companies like Dor Yeshorim. It is debatable if this is a good idea (but see point 3 below).
3. not all diseases are tested for termination reasons. There are some diseases that can easily be remedied at birth. Other people may not be comfortable with terminating certain diseases (for example, cystic fibrosis) but knowing that your child will be born with it sets them up for the most success possible.

[Anonymous]

No, this seems kind of extra. Unless you have reason to think you or your spouse might be a carrier, like if a family member has a terrible condition with a genetic component.