21 weeks pregnant - docs still not sure if baby is healthy :UPDATE possible noonans

Clairebear76

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Hi all,

Bit of a long story but very keen to hear if anyone has been through or is currently going through a similar situation to me....v anxious at the moment.

Had a high nuchal measurement of 6.5 at my 12wk scan and given a 1 in 5 chance of baby having DS. We chose to have a CVS and was referred to UCH where they successfully carried out this procedure and luckily all the results came back clear, including the full karotype. One hurdle cleared!

Advised to go back in 16 weeks for a look at the heart (another possible reason for high NT) though because of the early stage of pregnany still they couldn't really tell us much apart from the thought all was looking ok and no major holes. Referred back for my 20 wk scan to a cardiac specialist as they can tell a lot more at this point.

So, had my 20 wk anomaly scan last week and we were relieved to hear that baby's heart seems to be just fine, they thought there might be a slight problem but ended up ruling that out. Rest of the baby was also looked at and they seemed to be quite happy, slight concern chin was measuring borderline small but nothing too serious. At last, some positive news! The person that did the scan said he would still like us to see the doctor so that he could also look at the chin. 10 minutes later we were then told that they had a concern with the head so we would definitely need a second scan that day....worry again!

So, after waiting hours to see the doctor we finally had our second scan and were then told to wait for the consultant to discuss what they found. I also had a blood test to check for any possible viruses I might have had earlier in the pregnancy though they think that unlikely. When we finally got to see the consultant he told us that they had a concern with one part of the brain, the nose was looking on the small side and upper lip was protruding, plus a small amount of extra fluid around the lungs and whilst all these things were deemed 'borderline' the fact we have the high NT makes them extremely anxious. It could mean a rare genetic problem that CVS can't pick up nor could they pick up until baby was born. He even mentioned we still have the option to terminate the pregnancy up to 24 weeks. Basically though at this stage they just can't tell us for sure if baby is healthy or has a problem and to what degree that problem would be. I have another scan next week to look at the brain in more detail.

We have also booked in for a private scan on Wednesday with Dr Nicolaides at the FMC in Harley St. If we do have a difficult decision to make I want us to have explored every option open to us. I just can't give up on my baby boy just yet!

Anyway, sorry for the long essay but if anyone has any experiences like this I would love to hear from you, its been such a difficult couple of months. Its just the not knowing and uncertainty that is the hardest part at the moment. I also have a beautiful daughter who turns 3 this week so plenty to keep my mind occupied at the moment!

Thanks for listening :hugs:

C xxx
 
Huge, huge hugs hun. You are quite right to fight for your boy. I am facing my cvs tomorrow. My little boy has a 3.44mm measurement.

We have a very high chance of having healthy babies. 95% is great! If we had a 95% chance of winning the lotto we would sure buy a ticket!
 
Ah, best of luck tomorrow for your CVS, you will be fine! I found it a little uncomfortable but over in minutes. Plus they don't keep you waiting too long for the results either, I had my test on the Friday and by Monday was given the all clear.

I know, trying to keep as positive as possible.

xxx
 
I go through the doldrums worrying about the results and what if its not good, what will happen, how will I cope loosing my special boy who we tried so hard for. Then I pull myself right and just try think positively.

But do you know what? NONE OF THIS IS FAIR!!!!!!!
 
Just wanted to hop on here and say I'm praying for you and your baby today! I really hope the scan comes back ok and you have a healthy baby boy. But, I know it's so hard
trying to figure out how to deal with potential problems in your unborn child's health. So, depending on what news you hear today, I just wanted to mention a website I've come across that might be helpful called Heartlink. In particular, if you pull up a page there called "Adverse Pregnancy Diagnosis" it has a lot of articles and referrals that may be worth looking through. I'm not sure if it will give you any new information or not, but just FYI. Well, please keep us posted on how you're doing. ((Hugs))!
 
Wow, I can't imagine having to possibly make that kind of decision without all the information. I hope he is perfectly healthy and in the worst case, that you both find the clarity needed XO
 
Just thought I'd update on the scan we had today with Prof Nicolaides. He has basically said that there is absolutely nothing wrong with his brain nor any of his facial features, they all appear totally normal and he can't understand why we were referred for a neurology scan....however cause for concern is a pleural effusion on the right lung so he said combined with the fact I had a high NT at 12 weeks it could increase the chance of noonans syndrome. So, called out own hospital to ask if they tested for this with the CVS test but they hadn't.....so using my sample they will now test for this and tell us in a couple of days the outcome. Needless to say we have been doing endless googling of noonans! We now have a few days to wait to know for sure but at least we now feel we have been given more clear info. Does anyone on here have any experience with this particular syndrome?
 
Huge, huge hugs. I am waiting for my results so I can commiserate.
 
Thanks for the update-I'll definitely continue praying for you guys! Let us know what you hear, OK?
 
Didn't want to read and run
Hope all has turned out ok hope you and your baby boy is all good
 

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