r/22q

My partner and I are expecting MCDA twins with significant congenital heart conditions. Our larger twin has DORV with malposition of the great arteries, and our smaller twin has Pulmonary Atresia with VSD and MAPCAs (this was initially flagged as Tetralogy of Fallot before being reassessed). We’re in the UK, working with fetal cardiology and waiting on further imaging to firm up the picture.

We’re trying to connect with anyone who’s been through something similar, especially if 22q11.2 deletion came up as part of your diagnosis or testing. Would love to hear how your pregnancy/delivery was managed, what surgical pathway your child ended up on, and how things are going now if you’re willing to share.

Thanks for reading, and happy to answer questions if it helps anyone else too

I am 28 weeks pregnant and just got the genetic test results confirming 22q deletion for our little one and honestly am looking for any support, guidance, and resources because I do not know where to start

I know symptoms may be mild, but given the diagnosis of ToF that led to the genetic testing I expect this is not one of those cases where our baby won't even know they have it. I am so unsure about what this means for our family. There is so much out there and I don't know where to start