22q11.2 deletion risk - would you have an amnio/CVS?

[peamad]

We made the heartbreaking decision to have a TFMR in January at 21 weeks due to our son having 22q11 (DiGeorge's) and related abnormalities. Our genetic tests have just come back and we now know we are not carriers of the chromosomal disorder.

I had previously been told by the consultant that if we are not carriers then the chance of a subsequent child having the condition is very low, but the recent letter we received said there was a 2% chance. I am 11 weeks pregnant and very anxious for the health of this baby. I have been offered a CVS but feel like the miscarriage risk isn't justified when we aren't carriers. I am so confused. WWYD?

I had a TFMR with our DD2 who had DiGeorges and HRHS. We weren't carriers and we now have DD3. We chose not to have the amniocentesis or cvs with her as we had a low risk NT screening. If it had been borderline or even close to borderline we would have had the amnio.

I think NIPT or harmony can look for microdeletions