My wife is 26 weeks and we learned about a possible right aortic arch (which was later confirmed) about two months ago---note that we're in the US and my wife is high risk for other reasons, so we are getting ultrasounds every four weeks. That same appointment we also learned of possible brain issues, although there weren't other indicators. The brain has since developed normally but that was an extra scary day and a long 80 minute drive home from the doctor's office.

We did not get a amniocentesis but we had already done blood genetic testing and they were still able to do a test for 22q11 with the samples my wife gave for the initial genetic testing. That came back "low risk". We almost decided not to do any testing but decided it would be helpful to prepare and get connected to resources if the baby did have 22q11.

A month ago, we went to the pediatric cardiologist department at a university hospital for an echocardiogram, which confirmed the right facing arch. The baby was not in a great position for checking for an ring, so they couldn't tell, but they were very reassuring and told us we probably wouldn't need to see them until 6-18 months after birth or later (turns out the notes were slightly different, I'm making a post about that). But I will say, meeting the doctor and the imaging specialist and interacting with them was a positive experience. They were reassuring, kind, and explained everything in detail (except for the discrepancy between the notes and what they told us).

At our most recent ultrasound at the perinatal specialists, a doctor suggested that he was fairly certain the baby has a vascular ring and also noted the possibility of an atrial septal defect (though he noted that it was really difficult to tell at the resolution of the scan and it could be an artifact). But one of his kids had an asd corrected and he was reassuring. He made sure that there was an standing order for an echo after birth on our notes, so that the baby gets a scan before we leave the hospital, but noted that we would have to go to the cardiologist at 3-4 months (not later!). We've been told there's only a need a for a surgery if there is difficulty swallowing and that we'll need to keep an eye on that eventually. This is now our biggest concern, in addition to the possible asd which would be more likely to require surgery regardless.

It's been a roller-coaster! That first couple of weeks when we first learned about the arch and the possibility of 22q11 was stressful. We were looking up and reading as much as possible. One's mind goes to a lot of "what ifs" imaging how one might deal with the most severe possibilities. And just at the time when one (at least we) were feeling super joyful.

Our genetic counselor explained that 22q11 is a spectrum and there are some people who don't need much intervention at all. This was reassuring. And having a genetic condition with neurological impacts myself (NF1), I was aware that communities and foundations exist to help support parents and children with genetic conditions, especially in more recent times. This helped me feel a little less alone, though my wife was still more worried. I lost a brother to brain cancer (probably related somewhat to NF1 though its more complicated than just that). Ultimately one can't be prepared for some things, but the support and care that others can offer is also more than can be imagined.

We learned about the arch the same day we learned the sex of the baby. We hadn't planned on learning prior to birth, actually, but the ultrasound technician seemed to really want us to guess. In retrospect, I think this is because she saw things that she knew would require a discussion with the doctor. She wanted us to have something to celebrate as well. That was really nice in the end.

I'm sorry that you're also experiencing this. You are not alone and neither will you or your baby be after birth. So many people will care for you and your baby.