Hello
I was just wondering if anyone had been in a similar experience to us and could help.
Last year we fell pregnant and found out at the 20 week scan that our baby had a tetralogy of fallot. We had an amnio and found out the baby also had 22q11.2. We made the heartbreaking decision to end the pregnancy. We then had genetic testing which ruled out either of us being carriers of the syndrome.
Fast forward to now. We are pregnant and just been given the exact same diagnosis of tetralogy of fallot and awaiting amnio results for 22q11.2. As you can imagine we are angry heartbroken and have no idea what to do. At the beginning of this pregnancy we were told we wouldn’t need additional scans or CVS due to us not being carriers so the likelihood of a reoccurrence was so so rare. The only extra scan would be at 23weeks to double check the heart. At my 20week scan I was told the heart couldn’t be seen correctly, was in there for over an hour, I was then sent away and told to come back in a few weeks. I went back 10 days later and the sonographer picked up on something. A senior sonographer came in and confirmed a discrepancy in the size of babies aorta compared to pulmonary valve. I was so stressed and upset but reassured ‘this is nothing like last time’ I was then booked in to see the fetal medicine team a few days later where we had the tetralogy of fallot diagnosis, an amnio done and referral to GOSH. The fetal medicine consultant also said he’s surprised that this has happened again and it is more than likely our baby will have 22q11.2 again. He was also a bit shocked as it came back we weren’t carriers of the genetic mutation, he then mentioned a mosaic variation that lives in either the ovaries or testicles and can’t be picked up on a blood test?!
I can’t help feeling pissed off I wasn’t informed of the mosaic variation and also let down as when asked for extra scans / screening I was told it wasn’t needed. Low and behold here we are again.
So really has anyone been in this position before or one similar as I’m struggling massively.
Thanks