Mutations and Variants
Hi, everyone! I'm hoping someone out there has some advice. I'm 12 weeks pregnant and I learned a few weeks ago that I'm a CF carrier. I have delta 508. My husband had a more advanced screening done and while he doesn't have any mutations, he has two variants: 5T and M407V. We just learned that part yesterday.
We've met and spoke with our genetic counselor, but honestly it's all confusing. While our "chances" of having a baby with CF seem lower than if my husband and I both had mutations, it still sounds like we could have anything from a totally healthy baby, to a baby with "atypical" CF to full blown CF. Anyone else in this situation? Also, I think atypical CF is a blanket term for kids that have these mutations but don't necessarily have CF in it's traditional form--they have things like pancreatitis, sinusitis, congential absence of the vas deferns, etc. But does anyone know more or have good resource suggestions?