Would you get an amnio? Ambiguous genitalia at 20 week US

[Anonymous]

Thanks for the update. I think you absolutely made the right decision.

I had an amino without anesthetic (don’t even think i was offered it) and it honestly was not at all as bad as I expected. The pain was more like a pinch and some discomfort vs. actual stabbing pain like you would expect, and it did not last that long either.

Wishing you an easy amnio and good results.

[Anonymous]

Good luck OP. When we had a weird ultrasound finding, I did an amnio and got a 2nd opinion at CHOP. (Which found everything was fine.)

[Anonymous]

My heart goes out to you, OP. I have been where you are and the uncertainty is so stressful and heartbreaking. Will be sending you and your family love in the coming days.

[Anonymous]

I had 2 amnios and in neither occasion was I offered an anesthetic. It really was not painful, less than the flu shot I think, but I got a little bit of cramping during and for 15-20 min after. For me it helped not to watch the needle go into my belly. Be prepared because the needle and the syringe are big. Just look away and know that thousands of women do it everyday and risks are very very low. Our geneticist at GW told us that the chance of miscarriage is less than one in a thousand. It is much more likely for a baby to be born with a birth defect (I believe that is 3%) and in my case twice the likelihood of the baby being born without down syndrome (my risk was 1 in 400)

[Anonymous]

OP again, just having a chuckle at this thread being right beside the one where people are supposedly "miffed" and judgmental about parents not finding out the sex of their baby. When people ask us the sex now and we truly have no choice but to say "I dunno!" - I *wish* it was just because we were being pretentious assholes. Really puts in perspective the usual response when people ask what sex parents are hoping for and they just say "Oh, we're just hoping for a health baby." That always seemed like a bit of a non sequitur to me before, but I definitely feel it now.

[Anonymous]

Good luck op!

For my first pregnancy I spent weeks 20-23 waiting to find out if my pregnancy was viable (extra testing
of my blood work and my husband’s), viable but horrible genetic disease, or fine. It was a horrible wait and those days of not knowing are intense. (My daughter was fine and is 6 now!) I hope you have information soon that helps put this chapter behind you.

[Anonymous]

Why is there even a question if you would get the amnio. I get that nobody wants to do it just for fun, but this is a really really good reason to do it. There many be serious health implications you need to know about. Get to a genetic counselor as well. Standard karyotype and/or microarray may not be testing for all the right syndromes (i.e. things associated with ambiguous genitalia). Meanwhile, also get carrier screening at a lab with a big panel (Counsyl, Sema4) and make sure it includes 21-OH congenital adrenal hyperplasia as that is a very common cause of this. That way, if the amnio needs to test for that, you will have a head start in identifying any mutations. Make an appointment with a genetic counselor for this today!

[Anonymous]

Anonymous wrote:Why is there even a question if you would get the amnio. I get that nobody wants to do it just for fun, but this is a really really good reason to do it. There many be serious health implications you need to know about. Get to a genetic counselor as well. Standard karyotype and/or microarray may not be testing for all the right syndromes (i.e. things associated with ambiguous genitalia). Meanwhile, also get carrier screening at a lab with a big panel (Counsyl, Sema4) and make sure it includes 21-OH congenital adrenal hyperplasia as that is a very common cause of this. That way, if the amnio needs to test for that, you will have a head start in identifying any mutations. Make an appointment with a genetic counselor for this today!

I assume because amnio is not free of risk, even if the risks are low. In any case OP is doing it.

[Anonymous]

Good luck OP - keep us posted. And let's remember that it is possible to have a kind, supportive thread on DCUM!

[Anonymous]

Anonymous wrote:If your doc is experienced, I'd get the amnio. Otherwise, if it's easy to arrange, I'd get a second opinion.

I would schedule the amnio now. Then see about getting a second opinion in the meantime. If the second opinion is vastly different, you can always cancel the amnio. But waiting for the appointment for a second opinion then waiting again to get an appointment for the amnio sounds miserable.

More information is always better. If you’re going to need lots of medical support immediately after birth, that could also influence the hospital you choose, the pediatric practice, etc.

[Anonymous]

Good luck OP, hope all goes well and thinking of you.

[Anonymous]

Yes amnio and also realize there is such a thing as a "mosaic" human. This means that the karyotype could also differ from cell to cell. Usually only happens when a twin is absorbed but it does happen.

[Anonymous]

Anonymous wrote:OP again, just having a chuckle at this thread being right beside the one where people are supposedly "miffed" and judgmental about parents not finding out the sex of their baby. When people ask us the sex now and we truly have no choice but to say "I dunno!" - I *wish* it was just because we were being pretentious assholes. Really puts in perspective the usual response when people ask what sex parents are hoping for and they just say "Oh, we're just hoping for a health baby." That always seemed like a bit of a non sequitur to me before, but I definitely feel it now.

Hugs and good luck to you, OP! I love your sense of humor in this difficult situation. I hope the amnio goes smoothly and you're able to get the support you deserve. I would get the amnio in your shoes, too, and we were among the obnoxious who chose not to find out the sex for our first two kids! There's no need for you to live in more uncertainty than is necessary, and more information is often helpful. All best.

[Anonymous]

OP here - Amnio is done. I'm glad to put it behind me - the experience wasn't exactly my favorite thing but was manageable. Now it'll just be a wait for results; they're doing a FISH test so that should tell us the baby's chromosomal sex one way or the other in a couple of days, then it'll be a couple of weeks for full results of additional testing. Thank you all again for your support.

[Anonymous]

I'm glad the amnio was manageable and is done. All fingers crossed for a healthy baby, OP. Hang in there!