Very disturbing and opaque diagnosis at 20w scan: ambiguous genitalia, cardiomegaly, hyperechogenic bowel

[Lombriz]

We had our 20w scan last week and it was a bit of a shocker. Started normal at first: oh what a cute baby, look at the lips and the little feet etc etc then the dr said the heart looks "just a little too big". She went to get another dr, and then another dr. They spent hours looking at the baby and taking measurements. Then they said the following:

• First, the heart looks larger than it should, which is a sign that it might work too hard or it could be a genetic disorder. The structure of the heart is perfectly normal.
• They see something in the bowel which could also be a sign of genetic disorder or infection. They said it was very mild.
• They cannot clearly see genitalia which again is a sign of a potential genetic disorder.

We then did amniocentesis, still waiting for results, my risk of dawn's on other metrics was very low. The next day I saw two cardiologists in the same hospital. One said the heart was fine, only slightly larger. The other said there is an enlarged artery so it is a signs baby is under pressure. And interestingly they said that the bowel now looked fine!!!

Genitalia is still an issue: they think it is a boy but they cannot see the penis clearly.

Has anyone had any of these conditions detected? And is it possible that they are just reading too much into things? Like the bowel was a sign of genetic disorder one day and the next day it was fine! I am so so confused as every dr gives a slightly different interpretation. Some say it can still be ok, while others are saying it does look like genetic disorder.

I am now nearly 22w and I have seen the baby (in the scans) and it looks perfect to me, so it is really hard to digest that he might have a serious disease :(

We have a healthy 4 year old.

I’m afraid it absolutely can be @SemperOmnibusFacultas. I am familiar having gone through the process. It all depends what the doctors consider “serious handicap”. For instance, when I was undergoing testing at my hospital I was told that they would not tfmr after 24 weeks for a diagnosis of t21 alone, unless it was accompanied by another clear issue eg serious heart defect.

@Dinosaurus86
https://www.google.com/amp/s/www.bbc.co.uk/news/disability-63744073.amp

That is not universally true in the UK.

The reason this is important is OP shouldn't feel in any rush to make a decision. It has to be the right one for them (well the right from two awful choice)

I'm sorry you are going through this OP. I had a TFMR, but the diagnosis was T13, patau syndrome which is more clear cut on prognosis than CMV. I was earlier on in my pregnancy, but happy to answer any questions you have.
Remember that you aren't alone, and you didn't cause this ❤

Given the amount of replies just on this thread, there should be a TFMR topic on MN.

I really don’t want to derail the thread. But that is what I was told at a major London teaching hospital and I know not everywhere is the same. I was lucky that it did not apply to me. And I completely agree that no one should be forced to make such a decision quickly: I actually believe the law should be further relaxed.

I’m just saying that if there’s any risk that the hospital may not consider OP’s case to definitively constitute “serious handicap”
then she should speak to ARC asap, as I believe they can help find other hospitals etc.

I just read the rest of your thread and thought my last post could come at a bad time wishing you all the best on navigating the future x