Anonymous
Post 06/04/2019 16:30     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:OP here, test results came back and it looks like the baby doesn't have congenital adrenal hyperplasia (at least not the kind caused by the specific genetic issue they tested for, which accounts for 90 to 95% of CAH cases). So that's good news, certainly. However, it doesn't rule out her having one of the other forms of CAH not covered by this test. And now with all the results in we still have absolutely no explanation for what's causing the ambiguous genitalia we're seeing on the ultrasound. I sort of don't know what to do with this. It's not enough definitive information to eliminate all the concerns, so in a way it's like we're back where we started and just have to wait until she's born to figure out what's going on. I'll go over all this with my doctor, of course, in case there's something else we should be looking at now, but yeah - I guess we're just stuck in limbo for another ~14 weeks.


Very glad you got the results, OP, though it's a tough situation still. Limbo is not a fun place to be. You may well have consulted with a second (or even third) doc, but I'd definitely get multiple opinions if possible. They may say the same thing, but even that is information.

I'll be thinking of you and sending all good wishes. Hang in there.
Anonymous
Post 06/04/2019 16:29     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:OP here, test results came back and it looks like the baby doesn't have congenital adrenal hyperplasia (at least not the kind caused by the specific genetic issue they tested for, which accounts for 90 to 95% of CAH cases). So that's good news, certainly. However, it doesn't rule out her having one of the other forms of CAH not covered by this test. And now with all the results in we still have absolutely no explanation for what's causing the ambiguous genitalia we're seeing on the ultrasound. I sort of don't know what to do with this. It's not enough definitive information to eliminate all the concerns, so in a way it's like we're back where we started and just have to wait until she's born to figure out what's going on. I'll go over all this with my doctor, of course, in case there's something else we should be looking at now, but yeah - I guess we're just stuck in limbo for another ~14 weeks.


Please celebrate the good news, OP. You have ruled out something big, and that should give you a little bit of relief.

Hang in there OP. Wishing the best for you and your baby.
Anonymous
Post 06/04/2019 16:25     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
OP, is this your first? I assume you've done the microarray?
Anonymous
Post 06/04/2019 16:21     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
OP here, test results came back and it looks like the baby doesn't have congenital adrenal hyperplasia (at least not the kind caused by the specific genetic issue they tested for, which accounts for 90 to 95% of CAH cases). So that's good news, certainly. However, it doesn't rule out her having one of the other forms of CAH not covered by this test. And now with all the results in we still have absolutely no explanation for what's causing the ambiguous genitalia we're seeing on the ultrasound. I sort of don't know what to do with this. It's not enough definitive information to eliminate all the concerns, so in a way it's like we're back where we started and just have to wait until she's born to figure out what's going on. I'll go over all this with my doctor, of course, in case there's something else we should be looking at now, but yeah - I guess we're just stuck in limbo for another ~14 weeks.
Anonymous
Post 06/03/2019 15:57     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:Please stop saying everything is a crap shoot. I hate that expression.


You realize that craps is a dice game of chance, right?
Anonymous
Post 06/03/2019 15:36     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Please stop saying everything is a crap shoot. I hate that expression.
Anonymous
Post 06/03/2019 15:30     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
I feel the same way about gender reveal parties, OP! Hang in there, we're rooting for you and your little one.
Anonymous
Post 06/03/2019 15:20     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:OP, just checking in to make sure you're hanging in there ok.


Thanks PP, and the one above as well. I'm alright. Annoyed at having to wait another week and a half for these results, but hanging in there decently I suppose. Although, a college classmate of mine is pregnant and just had a gender reveal party, I happened to see it on social media and have been working through some less-than-charitable feelings about it. She's having a little girl too, presumably one without the particular . . . challenges . . . mine may have, and I suppose I'm just envious of her uncomplicated joy. I've also never been a huge fan of gender reveal parties anyway, and this experience has magnified that sense of "OMG what a silly idea" for obvious reasons. Sigh.
Anonymous
Post 06/03/2019 15:14     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
OP, just checking in to make sure you're hanging in there ok.
Anonymous
Post 06/01/2019 09:57     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Just wanted to say I am praying for you, your growing family and your medical team. You’re doing everything you can! I hope you’re also nesting and preparing for the arrival of your sweet little one. Praying for more answers, sooner rather than later OP!
Anonymous
Post 05/30/2019 11:07     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:OP here, thanks for checking in. I heard from our genetic counselor and it'll be probably another couple of weeks before the CAH test result comes back. In the meantime, I guess I'm managing alright - I suppose if you sit with something long enough it becomes just part of the background, or something. That's not to say I haven't also continued to go down worst-case rabbit holes - my current favorite is "What if I have an ovarian or adrenal tumor and this poor baby is just the canary in the coal mine and I'll be dead from cancer in a year??" I'm a lot of fun at parties right now!

Counseling doesn't sound like a bad idea at all.


I'm the 9:49 poster. I did lots of rabbit holes too, especially involving my then-toddler (whose reaction to all the potentially bad news and a very sick sibling I was very worried about). The counselor really helped with that. She literally told me "when your brain starts doing/saying this, tell it to do/say that instead." It was an effective tool.

Re genetic counselor...I begged ours to call and expedite the results. I told her I was willing to pay an expedite fee if there was such a thing. The fee was not an option, but she told me she nagged the lab and we did get some of the results a week or so sooner than we expected them. For some of the tests, they have to grow the cells so that takes whatever time it takes and there aint no expediting. Big hugs OP.
Anonymous
Post 05/30/2019 10:37     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
OP here, thanks for checking in. I heard from our genetic counselor and it'll be probably another couple of weeks before the CAH test result comes back. In the meantime, I guess I'm managing alright - I suppose if you sit with something long enough it becomes just part of the background, or something. That's not to say I haven't also continued to go down worst-case rabbit holes - my current favorite is "What if I have an ovarian or adrenal tumor and this poor baby is just the canary in the coal mine and I'll be dead from cancer in a year??" I'm a lot of fun at parties right now!

Counseling doesn't sound like a bad idea at all.
Anonymous
Post 05/30/2019 09:49     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Thinking of you, OP, and hoping you are hanging in there. I posted up thread somewhere about being in a similar position as you in terms of waiting for test results for a major part of my pregnancy. It was a really difficult road, and took a permanent emotional toll on me. The most helpful thing I did during the waiting period was talk to a counselor who gave me some tools for dealing with all of the worries constantly cycling through my head. The counselor was able to do this in just one appointment, and it definitely helped me cope. If you haven't seen anyone, I would encourage you to consider doing so. I found mine through the MFM practice I was seeing.
Anonymous
Post 05/29/2019 17:33     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
OP, just thinking about you. Hope you are one step closer to having answers.
Anonymous
Post 05/24/2019 08:56     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:This is OP. There were never any concerns about a heart defect, the concern is about a serious condition - congenital adrenal hyperplasia - that affects the adrenal glands and requires lifelong treatment with medication and hormones, and which can lead to life-threatening adrenal crises. That concern *hasn't* been alleviated - that's the one test result we don't have back yet, and based on what we've been told it's likely the baby will test positive for it. So I'm worried about that, and yes, I am worried about the baby's genitalia as well - I don't consider that merely a matter of appearance, since growing up "different" can be an ordeal unto itself, to say nothing of the functional issues that can be associated with virilized genitalia. That said, I'm not terribly interested in having this thread turn into a debate about the ethics of surgical correction or whatever else people are fighting about - I'm feeling sh*tty enough as it is, and I've already read plenty on both sides of the debate elsewhere on the internet.

I'm grateful to those of you who've responded kindly and empathetically, or have shared resources or your own experiences with learning that your child might face additional challenges in life, even if they aren't exactly the same as this.


Wishing you and your sweet baby the best, OP!