Anonymous
04/30/2019 10:19
Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
Good luck. I understand your wish to resolve the uncertainty, but you should completely understand whether it would make any medical difference to know in advance of the birth or upon birth. If there's nothing different that would be done during the pregnancy, and the hospital would be ready to provide appropriate treatment after birth in any case, I don't see the benefit in amnio, which does have risks, though small.
Anonymous
04/30/2019 10:14
Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
OP checking in (and that's me just above as well), just to say thank you to everyone for the kind words and advice. It's all very helpful. I'm working on setting up a second opinion ultrasound (it would help if my OB would call me back . . . 
) but have scheduled the amnio just to get it on the books, and we will make a final decision later this week. I'll keep the thread updated.
) but have scheduled the amnio just to get it on the books, and we will make a final decision later this week. I'll keep the thread updated.
Anonymous
04/30/2019 10:11
Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:Is the genitalia ambiguous on the ultrasound? Or is it looking like boy, but the NIPT said girl?
The former, if I'm understanding the doctor correctly.
Anonymous
04/30/2019 10:05
Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
Go for an amnio
Anonymous
04/30/2019 10:02
Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
I'd go for the amino. I don't think I could go 20 more weeks with the uncertainty. I think the benefit of knowing now is that you have time to process as a family and can try to plan for any medical issues that you will face after the child is born (speaking with geneticists, other specialists, support groups, etc). It never hurts to get a second opinion, but sounds like you won't know more until an amnio is performed.
Anonymous
04/30/2019 09:56
Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:Get an amnio. I had abnormal blood test results and I opted for CVS instead of amnio because that was a procedure that could be done earlier. Get the results ASAP and then make the best decisions for you and your family based on that.
I wanted to add... my CVS results reassured me that everything was ok with the fetus.
Anonymous
04/30/2019 09:56
Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
I would have the amnio. In my opinion the small risk is out weight by the information you will learn about your baby and about any hurdles you may face in the future.
Anonymous
04/30/2019 09:55
Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Get an amnio. I had abnormal blood test results and I opted for CVS instead of amnio because that was a procedure that could be done earlier. Get the results ASAP and then make the best decisions for you and your family based on that.
Anonymous
04/30/2019 09:52
Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
At my 20 week US they said they couldn’t get good images of the heart and wanted to send me to a Children’s Hospital for a more detailed ultrasound of the heart. Is that an option?
I’m so sorry you have this stress right now and hope that all will be will with your baby. Please keep us updated, if you wish.
I’m so sorry you have this stress right now and hope that all will be will with your baby. Please keep us updated, if you wish.
Anonymous
04/30/2019 09:50
Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Has your doctor mentioned cell-free DNA testing, such as MaterniT21? I don't know about the application for this specific issue, but it can give very accurate results on a number of genetic issues, including gender, and is non-invasive with no risk to the baby.
Anonymous
04/30/2019 09:45
Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
I've had two CVS (similar to Amnio) and I don't see the downside. A small risk of loss of a possibly seriously ill baby vs the peace of knowing exactly what is happening.
Anonymous
04/30/2019 09:29
Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:Just came from 20 week ultrasound and got some upsetting news - the doctor can't confirm the baby's sex one way or the other because there's possibly "ambiguous genitalia," i.e. those that show some female characteristics and some male characteristics. Our NIPT results told us we were expecting a girl, and the doctor explained that if those results were correct (meaning XX chromosomes) then the genital issue may be a sign of a serious and potentially lethal (if untreated) condition that would require lifelong medication and management, chronic adrenal hyperplasia. (If the test was wrong and the baby has XY chromosomes, the ambiguity might be evidence of other, different issues.)
The doctor indicated that the only way to find out for sure what's going on right now is to get an amnio, which would definitively tell us the baby's karyotype (XX, XY, something else) and also confirm/rule out congenital adrenal hyperplasia or other genetic issues. Of course, even if we confirm that's what's happening, there's nothing to be done about it now - we'd just have more information and be able to line up the best care team for post-birth. That said, having the information would serve a purpose in bringing peace of mind - I'm struggling with the uncertainty, what ifs, and worst case scenarios right now and am not sure I can go on like this for another 20 weeks.
(To be clear, this isn't a gender disappointment issue - I could not care less whether the baby is a boy or a girl, I'm just terrified of the possibility of a serious medical condition as well as the challenges of growing up as an intersex person.)
I'm leaning toward getting the amnio but would welcome any thoughts, perspective, encouragement, whatever.
OP, have you researched CAH? There are two common forms and both are treatable. This won't be life-threatening because you will be able to get treatment in plenty of time. These disorders don't even cause symptoms until the baby is older. I would try to just mentally prepare yourself for your baby to potentially have this condition. As you said, there is nothing you can do about it one way or another. More information won't necessarily help you right now.
One thing you could do that is non-invasive is you and the baby's father could get carrier testing. It's a blood test for genetic mutations (CAH is a genetic disorder). If you both are carriers then that makes it possible for your child(ren) to inherit the disorder. Everyone should get this if they're thinking about having a child anyway. I'm surprised more doctors don't offer it.
https://www.caresfoundation.org/what-is-cah/
Anonymous
04/30/2019 09:19
Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Is the genitalia ambiguous on the ultrasound? Or is it looking like boy, but the NIPT said girl?
Anonymous
04/30/2019 09:15
Subject: Would you get an amnio? Ambiguous genitalia at 20 week US
Where are you located now?
Anonymous
04/30/2019 08:33
Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US
Anonymous wrote:OP here - I lived in DC previously but have since moved, so I wasn't in one of the local hospitals and unfortunately can't go to Fairfax for the amnio.
I think you should seek a second opinion, especially if you’re in a smaller area with less experienced specialists. A friend was diagnosed with an extremely rare and dangerous pregnancy complication and after so much testing she turned out not to have it—but meanwhile they had suffered so much stress and fear. I would consider traveling to the nearest major metropolitan area with a great specialist.