Anonymous wrote:

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.

Here is the problem: if you do, what will you do with the information? I have late-diagnosis CF. I didn't know till I was older and the best way to diagnose is though genetic testing but just because you are a carrier doesn't mean your kids will get it. And, its not always cut and dry.

We’re both Ashkenazi and my 2nd cousin had CF so I was screened and my husband would have been if I was a carrier.

Anonymous wrote:I'm Ashkenazi and not having kids (I'm 50) -- can I still get a screening panel for insight into my own potential future health issues? If so, where (ie, not my OB)?

You can ask your doctor where to go our just do it yourself with 23&Me. But you might want to think through what you will do with this information. As a PP said, she found out that she's at increased risk of Parkinson's and now has to live with that dread hanging over her. Or you might just want to be tested for BRCA because that will inform your mammogram schedule.

I'm Ashkenazi and not having kids (I'm 50) -- can I still get a screening panel for insight into my own potential future health issues? If so, where (ie, not my OB)?

I had a distant cousin who had two kids born with CF so I did ask my OB about genetic testing. My doctor didn't seem concerned since it was cousins a few times removed but he did the testing. Well, even though my family claims to be solid Episcopalians from Scotland- I tested positive for the Ashkenazi Jewish genetic panel of diseases (CF, Tay-Sachs, Canavan, etc...). Then they ran the test on my husband and he was negative. It is something to keep in mind to tell our kids when they are older.

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.

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.

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 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 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 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????

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.

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.

No, because it wouldn't change our outcome.

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