Multiple defect finding at 20 week scan

[2020babym]

Just wondered if anyone had any experience of these birth defects that were found at a follow up/referred appointment. I can't find much online. Our baby has been ruled out to have T18, 13 or Downs. But they have found:

Congenital diaphragmatic hernia (containing bowel only at the moment)
Oesophageal atresia (which has caused his stomach to be very small)
Cleft lip & palate
Potentially micrognathia

Lots of issues, and we just don't know if he will be able to be treated for all these things because of the stress it'll put on him?

I haven't myself, OP, but I'm so sorry you're going through such a worrying time.

Hi I’m 15 weeks and been told my baby has severe micrognathia, I am in such turmoil. Had cvs 1st clearly waiting for second. Been told by professionals it’s not good news baby has very low chance of surviving. I don’t want to terminate. I am so overwhelmed I have hope but nobody seems to agree with me. Please update on your situation. All the best for you. 👍

@Alima82 I'm so so sorry to hear that. It's truly awful isn't it. Our doctor had convinced us our baby most likely had Edwards or Patau but we got the call yesterday to say that he doesn't. And at the moment everything they've found on our scan is "suspected" and nothing has been confirmed yet. We are trying to hold on to a glimmer of hope.

Are they 100% sure your baby has this severely?

Sending love to you today. Don't give up hope, there's nothing stronger than our love for our baby's.

Hiya,we found out on Friday at 33 weeks that our baby has oesophageal atresia after I was admitted to hospital with way too much amniotic fluid.
They can't see much of a stomach on the scan and will need surgery the day he is born and around a month in nicu.
It's really scary so I completely understand. They tested some of the amniotic fluid that they drained from me (almost 5 litres!) and results back today say he doesn't have downs,Edwards or patau but may have other issues that won't be picked up on until after he's born,eg heart or brain problems.
I've been googling and crying pretty much constantly but feeling better about it now.
Sending love

@moreteaplease84 so sorry to hear that. It's truly devastating. We have been in agony since our 20 week scan last Tuesday. Have they said what the recovery is like/how the baby will be after surgery etc.? Was the excess amniotic fluid not picked up at 20 weeks? At the moment my fluid levels are normal. But he has a small stomach, but we are unclear at this stage if it is because of his cleft palate and he's just having trouble swallowing...

Sending love and to you

Not sure if I'm replying in the right place,this app is a bit new to me!
As far as I have have been told,the problem our baby has can't be picked up during 20 week scan as it's not something that's usually seen until the baby starts trying to swallow the amniotic fluid which is a bit later in pregnancy.
I just thought I was having a massive baby and was so uncomfortable but I waited ages till I went to hospital and got checked and they hadn't seen such high fluid levels before! Normal is up to 25cm...mine was 61cm.
I have to go to our nearest specialist hospital in Newcastle every week to be scanned and maybe have more fluid removed as it will only build up again.
They want to induce me so I give birth there rather than having to rush there if I go into labour naturally,but will wait as long as possible as the longer he stays in,the better chance of a successful surgery.
They have only told me that he will be operated on as soon as possible after birth and then be put in the nicu but depending on the severity of the gap in his oesophagus,will depend on how many ops he will need.
Just feels weird going through the whole pregnancy to now expecting everything to be fine then hit with this at end!
I'm glad I found out before he was born though,gives us time to prepare and know (a little bit) what to expect xx

My son has a cleft lip/palate and some other issues too (hydrocephalus, brain abnormalities, learning difficulties, rumination syndrome, ehlers danlos syndrome, a sticking out rib and a birth mark). I understand how worried you must be.

@2020babym how are you? I'm having weekly scans at Fetal medicine and now they suspect Micrognathia too as they say his chin is small..only just spotted this at 35 weeks!
Still waiting on our second lot of Amnio results,but been told it could be genetic so even if they come back clear it doesn't mean much. It's scary,hope you're doing ok xx

@moreteaplease84 hey. So sorry for not replying before. We have been on an absolute roller coaster ride the last few weeks... we have now seen a more senior consultant/doctor and a peadatric surgeon, and they have now ruled out the hernia! They couldn't see it at all on the scan. Our baby also came back clear for any chromosome issues. We are in utter disbelief, the first consultant we saw CONVINCED us that there was something wrong with our baby and that he would not live.... the surgeon also doesn't think the baby has an oesphegeal atresia and that his small stomach is from his cleft palate (so he's having trouble swallowing...). However he can't rule it out for certain so we have a follow up scan next week and they've also recommended an MRI. The senior consultant also said that a cleft lip can give the PERCEPTION that the chin is small, so he's said it is small, but likely because of the slight facial disfigurement. It feels completely surreal this journey we've been on.... to be told our baby wouldn't survive to then being told they don't think he has any of these problems.. we are so scarred and traumatised up to this point that we just feel too scared to even feel relieved. I'm so scared something else is going to happen and they're going to say they're wrong again!!

Sorry for the long post!!

I hope you are doing ok!? What have they said about the micrognathia, eg mild/severe? When do you get your Amnio results? Keeping everything crossed for you and thinking of you 

@2020babym
Oh my goodness what a rollercoaster! I'm so happy for you,that sounds really positive! It's so hard to be able to tell things from scans I guess,like I can't believe we got to 33 weeks thinking I was having a standard pregnancy with no problems spotted on scans, then all of this happens!
I have appointments with Fetal medicine every week and it seems we get told told something new every week too,which is not fun. Last week it was the fact he had a small chin,which doesn't look too small,it could be to do with a chromosome issue,a genetic issue,the fact he might have a cleft palate at the back of his mouth...or he might just have a smaller than average chin and it might not be of any significance!
Are you having regular scans too? Xx

Thank you. God it's so tough isn't it!! Being told different things but none of it being 100%! I suppose there's not much else they can do as they explained to us an ultrasound is essentially just a mirror and nit a physical picture of what's happening, but it's so hard being told something, then something else, and then something else!

It's so tough to think that all is well with your baby and then to be told somethings not right so far down the lone :(

We have another scan next week with Fetal medicine and like you I'm just terrified they're going to find something else wrong and then be like we've now found this other issue!!

Have you been able to work? I've been off for 3 weeks now and would like at least another week until next weeks appointment is clear. But I'm getting very bored at home so hope I can return soon if the scan is ok next week.

We're still waiting for the next lot of Amnio results.been waiting since 31st of jan,which is the day we found all of this out.
Even if they come back clear,the small chin could be a genetic issue which it wouldn't pick up or cause by cleft palate,all of which we won't know till he's born. It's just a waiting game!
Was in hospital all day today (10.30-5.30) because they drained another 3 litre of amniotic fluid.
I don't work since I had my first son,he's 2 in a couple of weeks. So work isn't a problem for me but running around after a crazy toddler and trying to keep things as normal as possible for him is hard,I feel so guilty.
When the baby is born,I'll be living in hospital accommodation to be near the baby so I'll be away from my toddler which I'm dreading,I'm going to be so torn.
Hoping you get good news at your next scan xx

Oh hugs to you @2020babm and @Moreteaplease84

It is a rollercoaster isn't it? Glad you were able to get some reassurance and it's so difficult with ultrasounds as it isn't the full picture. Stay strong every week we are closer to our babies.

Our baby was diagnosed with bilateral cleft lip and palate at 20w - once by a sonographer and then by a FMU consultant. Then we moved hospitals and a repeat anomaly scan at the new hospital at 23w confirmed the bilateral cleft and also that baby had dropped from 30th centile to

@moreteaplease84 hi so sorry for the silence have been off mumsnet for a while. How're you doing? Have they said much more about the type of OA your baby has? We had an MRI on Tuesday to try and get a better picture of what's going on, we should hear next week. My last scan was 2 weeks ago and my fluid was normal, but really hoping it doesn't go up. His stomach was still very very small x

@lillianfullstop that is insane!! I cannot believe that. I know we are all human and human error etc but for something like that to happen and to put you through such a worry is shocking. I saw my mental health midwife yesterday and she was absolutely shocked at what we've gone through. She said if I feel ready and want to I should complain to the hospital.

How's your little one doing? How're you feeling about the cleft diagnosis etc.?