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

[Anonymous]

Anonymous wrote: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.

This. I had a number of markers and a heart condition that showed up at 12 weeks and 20 weeks. It put me at a higher risk for a genetic disorder. I chose against the amino. My doctor put it exactly as PP did — we chose no amino.

[Anonymous]

Anonymous wrote: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.

Having had the amnio, the benefit is : the facts.

Which helps you sleep at night, important for the next 20 weeks. Knowledge is power. OP shouldn't deny herself this because you are afraid of an amnio.

I had an amnio, and it was no big deal.

[Anonymous]

Anonymous wrote:Hey OP, if it does turn out that your fetus does indeed have ambiguous genitalia, know that many people who live happy and successful lives despite being intersexed. It is not a disability. Read up on this please!

Yes, this!

OP, I would definitely have the amnio so as to be mentally ready, to the extent possible, for whatever degree of medical upheaval is coming your way. But remember that this could be ambiguity that is on the spectrum of normality, too.

[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'd start with second opinion and schedule the amnio, you can always cancel.

[Anonymous]

Anonymous wrote:

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.

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.)

I had an MFM during my pregnancy with twins that I saw regularly (high-risk pregnancy). A lot of the things he and his staff predicted were not accurate -- specifically the twins birth size. They were certain one was < 3 lbs and the other was 7 lbs. They came out at 4.5 lbs each. I'd go with a second opinion - if you can get in within the next 10 days - and then amnio. If you can't get a second opinion within 10 days, I'd go for the amnio.

[Anonymous]

OP, have you spoken with a genetic counselor? CAH is a genetic condition. A counselor can explain exactly what information an amniocentesis will provide, then you can determine if the risk is necessary.

I personally would not get the procedure unless it can definitively diagnose/rule out the condition, there is a prenatal treatment for it, or there is some other benefit to having the diagnosis this early on (e.g. need to arrange surgery very soon after the birth). Otherwise, they can do less risky testing after the baby is born to diagnose the condition, and chances are that will be more accurate.

If you do get the amnio, be sure to make sure they test your blood, too, so they can compare the two and ensure the baby's sample wasn't contaminated with your own cells.

[Anonymous]

Second opinion. We had a soft marker for T18 show up during our 20 week ultrasound and we would have terminated with a positive diagnosis. We had a level 3 ultrasound and met with a genetic counselor. Based on the results of the ultrasound and the genetic counselor's input we declined the amnio and the baby was born healthy. If the MFM had found something to be concerned about besides a single soft marker or the genetic counselor told us the odds of T18 were on the high end, the next step would have been an amnio.

[Anonymous]

I had some issues with my first pregnancy. Genetic issues were expected and an amnio was recommended. We went to Fairfax and they told us they would do another careful and thorough ultrasound and depending on what they saw or didn't see we could decide to do that amnio that day.

We did not to do an amnio because the second ultrasound answered almost all of our questions.

There was peace of mind knowing that we could get these tests done at the same time and thus not pushing things off until later in the pregnancy.

[Anonymous]

OP: I hope that at some point you can speak to a genetic counselor. the NIPT should have picked up genetic abnormalities such as X, XXY, or XYY and things like Turners.

Ideally a MFM would explain both the ultrasound coupled with other scans and the NIPT results.

That said, my personal opinion is to get more information for two reasons: 1. you'll have the care team on hand if needed and 2. you'll be prepared mentally in advance.

Good luck momma.

[Anonymous]

Get the amnio! There is a very very small risk to it. I have done it twice for no good reason. You have a good reason. It’s simple, painless and no big deal. I did it at GW

[Anonymous]

Amnio.

[Anonymous]

Go to Children’s Hospital in DC for a second opinion (assuming you are local). We had a high risk MFM group at Holy Cross Hospital scare the hell out of us when I was pregnant with our first child. Ultrasounds are notorious for being inaccurate. We were told our child might be a dwarf or have other genetic abnormalities. Specifically told us the femur bone was curved. All of it was wrong. Children’s Hospital gave us a second opinion and said false alarm. Our son was born healthy and with no abnormalities. It was a terrifying experience. Wish you luck!

[Anonymous]

I would get the amnio. I think it’s better to know for sure what’s going on, so that you can have a plan for birth if needed.

[Anonymous]

Amnio.

[Anonymous]

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.