Pulmonary atresia with VSD

[Cantchoosename]

Hello,

I was wondering if anyone has any experience of having a baby with this condition. I am 24 weeks pregnant and was referred to a fetal medicine unit after the sonographer saw abnormal views of the heart at the 20 week scan.

We were told the condition can be present in Digeorge syndrome so we had an amniocentesis but don't have the results back yet.

It was explained to us that the baby will need surgery soon after birth to fit a stent and then open heart surgery at some point. The cardiologist reassured us that the outcomes are normally good but I keep googling things and am working myself up. One minute I feel more positive, the next totally anxious and feel sick about everything.

Thanks for reading

@Cantchoosename

Hello,

I was wondering if anyone has any experience of having a baby with this condition. I am 24 weeks pregnant and was referred to a fetal medicine unit after the sonographer saw abnormal views of the heart at the 20 week scan.

We were told the condition can be present in Digeorge syndrome so we had an amniocentesis but don't have the results back yet.

It was explained to us that the baby will need surgery soon after birth to fit a stent and then open heart surgery at some point. The cardiologist reassured us that the outcomes are normally good but I keep googling things and am working myself up. One minute I feel more positive, the next totally anxious and feel sick about everything.

Thanks for reading

Sorry that you're having to go through this stress, especially at 24wks.

My advice would be to wait on results of amniocentesis, from my experience they come back within a couple of days. Hopefully the baby does not Digeorge syndrome.

I would take some comfort in the fact cardiologists believe the issue to be manageable.

Best of luck x

Thanks @BabyOnBoard90 hopefully we won't be waiting too long for the results x

@cantchoosename How's it going OP, any luck?

Hi @babyonboard90 we got the first set of results from the amniocentesis which are all clear thankfully. The midwife said it could take another 2 weeks for the rest to come through so we are just hoping they are all clear too. Thanks for asking, I hope you are enjoying the Christmas holidays.

Just wanted to send you a message to see how you are? We didn't have this exact diagnosis but I did undergo a amniocentesis and digeorge syndrome was something we were concerned about due to the nature of my LO's heart. I hope you're doing ok. I remember my results coming back quickly for the first 3 chromosome abnormalities - the bigger report did take about two weeks. It is the most overwhelming time and it's terrifying - I felt so out of control.

As I type this, my LO is asleep in my arms - we're still not at the end of our road but we're so so much further ahead. Wishing you all the very best x

Hi @littlebutterfly185 thanks so much for your message, overwhelmed and out of control describes pretty much how I have been feeling.
We have got the rest of the amniocentesis results back and they are fine thankfully. It has made us feel a bit better and more positive but we know there are some tough times ahead. I feel like I can start to get my head around it a bit more now and hopefully start to feel excited about having a baby again.
I hope your LO is doing great, wishing you all the best x

We had a similar situation a couple of years ago, where my baby was diagnosed with a right aortic arch & that di George could have been a factor. Thankfully the amnio ruled that out. She is now 2, and doesn’t have any symptoms of her heart condition. But it was truly a terrifying time for us. Sending love x