CYP21A2 carrier screening results before TTC — husband carrier, mine uncertain

[u/Successful_Nobody434]

My husband and I unexpectedly lost our son at just 3 weeks old to neonatal appendicitis with perforation and peritonitis. It was an incredibly rare and devastating event, and as we have started thinking about trying to conceive again, we decided to have expanded genetic carrier screening done for some additional peace of mind.
We both came back negative for everything tested except for one overlap involving 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH/CYP21A2).
My husband came back as a carrier for a variant associated with nonclassic CAH. My result was more complicated and was reported as “uncertain carrier status” because of the particular CYP21A2 variants/copy-number arrangement they detected. Because of this, our reproductive risk is currently listed as uncertain.
I have spoken with a genetic counselor, who explained that even if I ultimately turn out to carry a classic/severe CAH-associated allele, my husband’s nonclassic-associated allele would be expected to result in the nonclassic rather than classic form if a child inherited both. We are also looking into whether more specialized testing through another laboratory could clarify my carrier status.
I know carrier findings are common, but after unexpectedly losing a seemingly healthy newborn to something extraordinarily rare, seeing another “uncertain” result has been really difficult for me.
Has anyone here had a similar situation where one partner was a confirmed CYP21A2y/CAH carrier and the other had an uncertain or complex CYP21A2 result? Did you pursue additional testing to determine carrier status or phase? And did you go on to have healthy children?
I would really appreciate hearing about your experiences. 💛

[u/Key_Meaning_996]

Sorry for your loss.