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.

Sorry no advice but didn’t want to read and run.
I had my 20 week scan done 3 times as they couldn’t figure out the heart size and spine. It can be so worrying when they don’t fully explain things and when each consultant says something different.
The main thing is they are taking care of you and your baby and doing extra scans and checks to make sure everything is okay.
I’d write down a list of questions you have for when you’re next seeing them and asks why two cardiologists have differing opinions.

I don't have any advice but I'm so sorry you've been told this. It is a worrying time. I hope they have given you a plan for monitoring and can answer the questions that you have next time.

We were told our baby had a 'bright' bowel at the 20 week scan, which can be (if I recall correctly) a sign of Down Syndrome and also of cystic fibrosis. We were referred to a consultant.

Consultant scanned a week later and said the bowel was perfectly normal, they had probably just had the ultrasound on the wrong setting as I am on the small side.

Baby was absolutely fine.

I hope that helps reassure you - it's really horrible not getting a clear answer. Good luck with the results x

Sorry you are going through this. When do they expect the amnio results back?
I agree with writing out a list of questions to ask. Depending on your results, ARC can be helpful in providing support and advice.

Antenatal Results and Choices (ARC) – non-directive information and support before, during and after antenatal screening (arc-uk.org)

@SproutsAndBaubles thank you, yes this was v frustrating because with the bowel as well they said it was a sign of Dawn's or CF, and then the day later it was fine...

it just makes me think the other problems will also disappear like that. I really wish they do

@DSD9472 , thank you! We did it on Monday so by the end of the week we should get some of the results back. What an agonizing wait.

Have you heard back OP?

I had a close relative with similar. It was an infection like chickenpox. Baby was fine.

@User79853257976 , amnio showed that baby has CMV :(

It's been an absolute nightmare to figure out what this means for us. They are not able to figure out if that happened in 1st or 2nd trimester so it's impossible to tell how affected the baby might be.

From what I've read, it varies greatly. But the worst case outcome is a severely disabled baby who can never have an independent life. It's devastating and for now I'm not really sure at all what to do.

I absolutely cannot believe I have not heard of CMV and this happened to us.

Oh OP. That is devastating. I have no words. I’m so very sorry. I too had dreadful news at my 20 week scan (which wasn’t done until 24 weeks). That was 12 years ago now but the devastation is unreal. You’re suddenly part of a club you never anticipated being in. I second the ARC website. The forum is specifically for parents who’ve made the heartbreaking decision to end the pregnancy. Even if you do continue the pregnancy and don’t join the forum, the site itself is a lifeline for those who are searching for answers and insight. I’m just so sad and so sorry for you. I wish I could say something more adequate. 💐

Really sorry to read your news op.
Wishing you all the strength and support possible as you try to come to terms with what this means for you and your family. 💐

Really sorry to hear that. Sending strength to you and your partner.

Unfortunately, (this is to the previous poster) if the abnormalities actually appear to be evident on screen and amnio has actually shown CMV, it's unlikely the baby would turn out to be healthy. OP, I'm so sorry, you must be feeling devastated right now.

No, a very quick google and you can easily find out for yourself.

Most abortions in England, Wales and Scotland are carried out before 24 weeks of pregnancy.
They can be carried out after 24 weeks in very limited circumstances – for example, if the mother's life is at risk or the child would be born with a severe disability.

@SerenityNowInsanityLater ,thank you for the kind words. I've been in an absolute state of shock since we found out a few days ago. I couldn't sleep or eat, and only now I'm trying to come back to normal. We also have a 4 year old to take care of.

The worst part is that the doctors keep giving us hope and they want us to carry on and keep doing scans every week and if nothing shows up to take a chance and have this baby (even in the best case we have 15% risk of deafness etc and need to do tests for first five years).

It feels like these risks are too high, even in the best case outcome and there're no guarantees of anything. We definitely don't think it would be fair to bring a severely disabled child into this world (I have close friends who spent their lives caring for relatives and it's not a life for anyone involved). But it's so so hard, because nothing is certain and I feel Doctors want us to take a gamble. Is it wise to gamble with someone's life??

OP, what a difficult and painful decision. It sounds like the doctors are trying to push you into continuing the pregnancy, but unless the doctors are volunteering to do the care themselves, it's your decision, not theirs. Such a hard time, but do try to be assertive about what you and your partner think is right for your family. Sending you strength!

I'm so sorry OP

There is hope though, most (90%) babies born with CMV never show signs of the disease and don't have health problems

Honestly this is not the time or place for your comments.

OP I have no advice but could not read and run without sending love.

@Purpledragonz I know. But I feel its making it even harder. The severity of disability depends very much on when I got the virus and there a 50% chance it was in first trimester which is the worst time and then your chances of worst outcome well above 10%. And even out of the 90% of the babies who are born healthy a decent percentage develop issues later on.

And also it seems we have another, potentially genetic problem as doctors don't think genitalia is connected to CMV (they now have figured it is a boy but genitalia haven't developed as it should by this time).

I'm so sorry OP. there are no right or wrong decisions in this situation. Thinking of you