Anonymous
Post 05/10/2019 17:13     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US

Hugs OP. At 17 weeks I was told I have a baby girl (by a super experienced and known OBGYN); while my ambio came back showing a boy. I am a proud mama to a healthy 6 years old boy. So just think positively and all will be done soon.
Anonymous
Post 05/10/2019 12:56     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US

Don't feel guilty for feeling anxious at the possibilities. Being in diagnosis limbo is incredibly hard. Take it one day at a time OP. I am wishing you and your baby much health and happiness in the future.
Anonymous
Post 05/10/2019 12:53     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US

OP thank you so much for the updates. Lots of people sending you positive thoughts to you and your sweet baby.
Anonymous
Post 05/10/2019 12:42     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US

She's a girl! another hug for you. Take care of yourself.
Anonymous
Post 05/10/2019 12:37     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US

Hugs, OP. Your child will be beautiful. Step away from google. It'll be OK!
Anonymous
Post 05/10/2019 12:23     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US

Anonymous wrote:Wishing you well, OP. What is your next step? Can you get a second opinion on ultrasound to see if a different doctor sees something else?


As it happens, it was a different doctor who did the amnio, and she did an ultrasound first to make sure of the baby's position and also take a look. She saw the same thing and explained it to us in detail, and perhaps what sucks the most, DH and I could see it pretty clearly ourselves (the usual "three lines" you get with a girl, but not as bright/distinctive as they ought to be, plus something extra up top where a girl usually doesn't have much). I sort of wish we hadn't seen it, it'd be nice to have a bit more room for denial at this point. Hoping it'll magically look different at our next ultrasound, but I don't know if that's a thing that actually happens.
Anonymous
Post 05/10/2019 12:14     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US

Wishing you well, OP. What is your next step? Can you get a second opinion on ultrasound to see if a different doctor sees something else?
Anonymous
Post 05/10/2019 11:14     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US

Hang in there, OP, and hugs to you. Try to stay away from the Google (so hard, I know). You'll have test results in a few weeks; for now, distract yourself as much as you can. Sending you all the very best.
Anonymous
Post 05/10/2019 10:21     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US

Anonymous wrote:OP again - The baby has XX chromosomes according to the FISH, that essentially rules out things like Klinefelter syndrome (XXY) or Turner syndrome (just one X) as the explanation for what's going on. It'll be a few weeks before the more complete test results come back, those are the ones checking for congenital adrenal hyperplasia or other potential causes of this issue. I was feeling better at first that the FISH came back normal since at least we could say definitively it's a girl, but then went down a Google rabbit hole and discovered something called XX male syndrome and now I might be more upset than I was before. Sigh. Hoping the next few weeks go by quickly, I'm not loving existing in a world of multiple bad possibilities (albeit fewer than before, I can acknowledge that). I'm mostly wishing this turns out like the PP who was told her baby had a club foot based on an ultrasound, but then the baby was born totally normal - though that doesn't seem terribly likely.


Hugs OP. I hope everything comes back ok... it's so freaking hard. I'm the PP whose baby had the choroid plexus cysts and I was terrified until I held the baby in my arms.
Anonymous
Post 05/10/2019 10:12     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US

HUGS OP. Hang in there. I hope this turns out well for you. Keep us posted as you get more details. Many of us will be thinking of you.
Anonymous
Post 05/10/2019 10:08     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US

OP again - The baby has XX chromosomes according to the FISH, that essentially rules out things like Klinefelter syndrome (XXY) or Turner syndrome (just one X) as the explanation for what's going on. It'll be a few weeks before the more complete test results come back, those are the ones checking for congenital adrenal hyperplasia or other potential causes of this issue. I was feeling better at first that the FISH came back normal since at least we could say definitively it's a girl, but then went down a Google rabbit hole and discovered something called XX male syndrome and now I might be more upset than I was before. Sigh. Hoping the next few weeks go by quickly, I'm not loving existing in a world of multiple bad possibilities (albeit fewer than before, I can acknowledge that). I'm mostly wishing this turns out like the PP who was told her baby had a club foot based on an ultrasound, but then the baby was born totally normal - though that doesn't seem terribly likely.
Anonymous
Post 05/09/2019 14:48     Subject: Re:Would you get an amnio? Ambiguous genitalia at 20 week US

Anonymous wrote:OP just checking in with an update, we decided to go ahead with the amnio. We'll also speak with a genetic counselor before that appointment so that we have a fuller picture of information. I'm feeling slightly less like a basketcase now, possibly because at least we've made a decision, but I'm also grateful to everyone who commented here. I think I was feeling as if it was some sort of personal failing for me not be able to just live with the uncertainty until the baby's born, and it helped a lot to hear from so many who supported the choice to do an amnio or had even made the same choice themselves in their own situations.

The appointment is a few days away, and then after that it'll just be a bit of a wait for more information and a follow-up ultrasound. I'm a bit nervous about the procedure, unsure whether to request anesthetic or not (one nurse said the anesthetic shot might be worse than the amnio itself?!), so welcome any experiences/advice you all can share.


How did it go OP?
Anonymous
Post 05/08/2019 13:59     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US

Good luck OP - wishing you and your family the best!
Anonymous
Post 05/08/2019 10:52     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US

Wishing you well OP!!
Anonymous
Post 05/07/2019 16:50     Subject: Would you get an amnio? Ambiguous genitalia at 20 week US

OP, I was told at my ultrasound that the baby had clubfoot (this was at Holy Cross in Silver Spring), which was completely wrong. I was also told that based on some test results the baby would have major birth defects, like spina bifida. I did the amnio and it came back normal, and they realized the issue was with my placenta, not the fetus. DS is now almost 7 years old and completely fine, but for a while we were in a total panic and ready to terminate.

This is all to say that you don't yet know IF something is really wrong, and if it is, to what extent. You always hear about all the false positives in things like breast exams, but not as much in tests related to pregnancy.

I hope everything goes well for you! Good luck!