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.

The 20 week scan is typically where they do a more in-depth scan specifically looking for abnormalities/potential issues. At the scan they take measurements and check all the anatomical structures etc.

At the 12 week scan the baby is too small and hasn’t developed enough for a lot of abnormalities to be visible.

If the OP is an NHS patient then these are likely to be the only scans she was offered, unless there were specific concerns earlier on in the pregnancy. Sometimes people will have extra scans privately but these are usually done for reassurance very early in pregnancy (and just confirm baby is in the right place/there’s a heartbeat) or they’re done because the person wants to know the baby’s sex (the sonographer will be mainly focused on that, the scan isn’t designed to look for other complications and abnormalities so they may not be picked up unless they’re obvious).

I'm so sorry that you're going through this. It can feel like an impossible decision when it's not clear on prognosis. I had a TFMR 15 years ago for a condition which is life limiting but difficult to tell the severity until birth. I'd seen how difficult it can be bringing up a disabled child as my cousin had a genetic condition and died as a child. I thought our consultant wasn't in favour of termination but actually I think he was being careful not to influence us. Once we'd made the decision, he said he thought those that continued didn't fully understand how hard bringing up a disabled child was, particularly when you already have a child.

I do have moments of what if, but ultimately I've never regretted my decision. It wasn't easy, and it took a while to recover emotionally. And my subsequent pregnancy was hard, but he's now a delightful 14 year old.

If you haven't already contacted ARC mentioned above, I'd recommend it. They have a parent forum which was a life saver in those early days. It'll also help you prepare yourself for what happens. It is heartbreaking and I wish you all the best wherever decision you make.

I’m so sorry, OP, thinking of you in whatever decision you make

Sending a handhold OP, I remember too well how scary this is. I got told at my 20week scan that they thought they'd seen something on DD's heart and they were referring me to a specialist hospital and would have an appointment in the next two weeks. Had the shock of my life to get a call on the way home asking me to attend the specialist hospital at 8:30am the following day. Turns out they were absolutely right, there was something wrong with her heart and I was having regular scans until the end of pregnancy and now followed up with paediatric cardiology. I know your head must feel like absolute mush right now and you're on autopilot so sending you all the love and support you need. ❤️

This isn’t the thread for such questions. But yes. You can have a TFMR. Please. Don’t debate me on this or ask any further questions. Do your research if you want proof.

This must be the most shocking news op. No words of wisdom but I didn't want to read and run. Huge hands hold from me and I will hold you in my prayers tonight xx

OP, I'm so sorry.

Wishing you strength whichever way you proceed, there are no right or wrongs in a situation like this, all decisions are made because you love them.

@Lombriz I had a termination for a life limiting genetic disorder. It was one of the hardest decisions I ever made. But like you I was already a parent to a DC , both DH and I needed to work full time for the mortgage and I knew we wouldn’t be able to cope with the worst scenarios of the condition. There was a chance the condition could have been mild.
Its a heart wrenching decision I don’t regret it but I often wish I hadn’t known (it was picked up on amino testing) and had just carried on oblivious and dealt with it as it played out .
Ultimately though you need to do what is right for you and your family.
I agree with the comments about ARC , only people who have been through this truly understand how traumatic this is and the emotional toll it takes

Having been through something similar I would recommend https://www.arc-uk.org/ they are fantastic and really helped us.

I'm so sorry OP. I know someone whose baby was affected in the womb by the herpes virus. They only found out when baby was 4 weeks old. So desperately sad and incredibly hard on the family. Mum is a full time carer now. Of course she loves her daughter to the moon and back but it's desperately desperately hard. Constant care, hospital trips, begging hospices for respite just to get a break. Fights with the hospital not to withdraw care. Her life is very very tough.

I wonder if the doctors have to be very careful to ensure they're not construed as encouraging a termination. I wouldn't be swayed by them.

You're in a terrible position but I suspect there's little anyone can say to help. All I can say is that if one of my friends were in this situation I would be 100% supportive with whichever course of action they took.

I second the use of ARC.
I found them very helpful.

Unfortunately we got more information as DT babies grew but didn't get the pertinent bit which showed DT1 had a malformation of the trachea which meant incompatible with life until after he was born. He passed away after 9 hours.

We carried on with the pregnancy at one point having daily US and each step of the way different prognosis was suggested depending on gestation and consultant.

I didn't know until pregnant with complications that you can have a medical termination up to term. As I had DTs we had the option of a selective reduction which we were advised to do by some professionals and advised not to do by different ones.

It may be as baby grows a little more some of the potential issues become clearer and you can make a more informed decision. However this does mean waiting a while longer which might be harder to cope with.

Also all the answers are never available to you. You can only base your decision on what is available to you at the time and what is best for your family.

This is something only you can decide. There are no right or wrong answers

Sending hugs and support.

I can only comment from the perspective of having cared for two sisters who both had CMV. It was very, very challenging, and they had a very poor quality of life.

This is only my experience, and they both had the very worst cases of cmv that could present. I am sorry to say this, but as you're posting online I'd like to think that all perspectives and experiences would possibly be useful to you.

please do what is right for you and don't for a moment feel bad for whatever way you choose to go. sending you genuinely supportive thoughts.

I agree with PPs that doctors tend to act very “pro” carrying on the pregnancy as they don’t to personally feel that they are pressuring women into a termination or be accused of applying such pressure. I think if the OP wants a termination and says this to the doctors, they will not put obstacles in her way.

So sorry you're going through this OP. Your last post reads as if you're leaning towards TFMR but are holding back from making the decision because the doctors are continuing to advise monitoring etc. Just wanted to agree with others that they have to be very careful not to influence you and allow you to make your own decisions. Whatever you decide will be right for you and your family.

For anyone reading who's unaware of CMV, there is a useful website here
https://cmvaction.org.uk/
I worried immensely about contracting it during my second pregnancy, as women most at risk are mothers of small children and those working in childcare. I really don't know why this isn't more widely known about. We all read and follow the advice to avoid soft cheese, rare meat etc, yet nowhere in the standard NHS advice is there information about avoiding toddler's saliva/mucus/urine. It's impossible to avoid altogether but how can women try to if they have never been informed about it.

As others have said there are no wrong decisions, do what is best for you and your family.
Sorry you are going through this.

So so sorry for your situation. It's easy to say hypothetically I would do this or that but I can't grasp actually having to make that decision.

OP sorry that you find yourself in this situation. I too have been there. Like a previous poster my pregnancy was twins and I ended up having a tfmr of one twin (selective reduction) at 29 weeks.

Our situations aren't the same but like you mine was a grey diagnosis that came after 20 week scan. The docs encouraged me to take my time (in fairness in part because there was another baby involved) and we made our decision to terminate across many weeks having done many scans and spoken to various specialists to help us understand what we were dealing with. The information I received got worse with time- there was multiple issues that compounded which ultimately led me to the decision I made.

In my experience, if you're a candidate for a tfmr due to fetal abnormalities you should be able to take the time you need to make the right decision for you

I'm 8 years on from this and as much as I'd love to be raising a healthy boy, with the cards I was dealt I made the best decision I could. Others will of course have made a different decision and that's of course the right one for them. You know what's right for you and your family.

Hello

I couldn't read this and not reply. I am so so sorry this is happening to you.

It's a difficult thing to say, but if you are leaning towards TFMR, I agree with what the others are saying. The medical staff are possibly erring on the side of encouraging you to wait and see.

I had a TFMR for Edwards Syndrome T18. I have no doubt in my mind it was the only option. It doesn't mean it wasn't awful and hard but I couldn't put us through the heartbreak of having a baby who would probably die before or soon after birth.

I agree, ARC is very good.

Drs are allowed to push termination? If they think it’s necessary ? With my last dc (2020) the consultant said to me after my 12 week scan that she wanted to talk to me about it and recommended I have one as I was at high risk as was baby as I’d had 4 c sections already (baby was healthy) she said she wanted the idea ‘out in the open’ as it was what she recommended

OP I’m so sorry. I urge you to phone up ARC as soon as possible. I have tfmr; it was the hardest thing to do, but I do believe the best for us. We also had another child to think of.

ARC will give you somewhere to talk openly and can provide good practical advice, especially if you are nearing the 24 week mark and it sounds like the hospital aren’t necessarily supportive of all options (I do believe that with such a significant diagnosis you should be able to take more time, have more scans to see how things are progressing, but they will be able to provide better advice in that regard as I believe there’s some degree of interpretation in the law i.e how severe/certain a condition needs to be to tfmr beyond 24 weeks and which doctors agree to it).

No @Dinosaurus86 the 24 week limit isn't relevant for TFMR.

With respect, doctors urging you to wait and see are not going to be ones looking after a child with serious health issues for the next 18+ years. Their ability to work and earn a living or go on holiday are not going to be impacted. They are not going to be the ones struggling to cope. Do you know how many marriages break up when there is a child with health issues? You also have your 4 year old to consider. There is no doubt in my mind what I would do. I had amniocentesis and if it had shown a chromosomal abnormality my husband and I were in perfect agreement that I would have a termination. (No, I don't hate people with Down Syndrome and I think they should have the best possible lives and outcomes but I didn't personally think I could cope.)

CMV is tricky because the effect on dc could be from nothing to fairly severe and they cannot tell you in advance.

We had an abnormal scan (different cause) at 18 weeks (just the one back then) and were given a 10% chance of congenital disability and went ahead, all was fine, but I had to make the decision that I would be able to bring up a potentially seriously disabled child. As it happens my other dc was diagnosed with autism before dc2 was born.

I do not judge anyone who takes a different path to me but do ask to see someone with good experience of this disease

I'm sorry OP, I don't have direct experience of this but have a close family member who has lived in care since toddler, now 30's. It takes a team to provide care and they have no awareness of family or life around them. Sad to say I'd made the decision to TFMR when I had genetic counselling but information came to light about the genetic condition coming from the maternal line, so a previous partner of my DH. I hope you get the support you need but it's very much your decision, nobody can know how you feel.