Would you get an amnio? Ambiguous genitalia at 20 week US
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Anonymous
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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. |
Anonymous
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Maybe start out with a second opinion.
Get another ultrasound, more sets of trained eyes. |
Anonymous
| Hugs to you and your partner. I am so sorry; this is a difficult time. I would have the amnio. As you say, it will give you more information so that you can plan for post-birth needs. Hoping for the best outcome for you all. |
Anonymous
l +1 |
Anonymous
| If your doc is experienced, I'd get the amnio. Otherwise, if it's easy to arrange, I'd get a second opinion. |
Anonymous
You know what, I change my vote. I'd get the amnio regardless. The end of pregnancy is stressful enough, you don't need more worry and stress if you have doubts. Best wishes! |
Anonymous
The doctor who reviewed the ultrasound and spoke with us is the MFM who was on call at the hospital ultrasound center, not my regular OB. I assume that means she's very experienced in this kind of thing? (I have no experience with MFMs otherwise so am not sure.) |
Anonymous
Oh. Sorry  I'd definitely get the amnio to be sure though.
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Anonymous
| I would probably get the amnio. Sending love your way, I am sure this must be incredibly tough |
Anonymous
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Another vote for a second opinion. If you can’t do anything and will have the answer at birth, it seems like not doing the amino is a good option. I can’t tell from your post if it would give u a definitive diagnosis, but it sounded like it may not and is only meant to confirm/dispute the NIPT results. You could always have that test redone too.
Sorry you’re going through this. |
Anonymous
| I’d get the amnio. Good luck. |
Anonymous
Sending love. Is there an amino outcome that would change your or baby’s medical care choices? If so: get it. |
Anonymous
| For me, what-ifs are far more stressful than concrete information. I wouldn’t want to go through the rest of my pregnancy a basket case (and I would be). Only you know yourself. |
Anonymous
This. I'd get the amnio. |
Anonymous
| If you didn't already go to Inova Fairfax. Antenatal Testing Id go there and ask for Dr Obi to be in the room for the ultrasound. She is very skilled and will do that. |