My husband also had the big panel for carrier screening. He was negative for carrier status. We were surprised after conceiving to learn that we still had a 0.2% chance of having a cf baby... 1 in 500 because DH hadn't been sequenced. We were optimistic that we wouldn't have a cfer but discussed that now that we were pregnant we wouldn't want to abort.
We did the blood test screening for the big 3 - trisomy, downs and spina deformations I believe it was. DH and I decided we wanted to know if we were dealing with any of these issues. The pregnancy was uneventful and I felt the best I'd felt my whole life. When we had ultrasounds they always checked the bowels for "blightness" I think its referred to. To me this is the only reason I would argue wanting to know if a baby in my stomach had cf. So that if he needed surgery at birth the hospital would be prepared with teh best staff on duty as possible. For this reason, I chose the hospital I did...wonderful children's hospital literally next door. You see having the cf diagnosis isn't necessary to monitor the baby's bowels. Nothing strange with his bowels ever showed. We had a healthy baby that developed better than most mother's with cf babies...no IUGR.
When Isaac was 2 months old I had him sweat tested and genetically tested (same day). The sweat test came back within a week negative. The genetic test came up with two mutations. My little boy has cf. We were blown away to say the least. It's still sort of shocking. But he has so many positives to his situation that I can't feel sorry for him or our situation: pancreatic sufficient, no lung involvement, 75-95 percentiles for ht/wt, vasa present, functioning CFTR evident by negative sweat test and awesome personality LOL...and super cute
In hindsight, do I wish I'd done a CVS or amnio? Absolutely NO!! The information would have shaded my pregnancy which as I referred to earlier will always be a highlight of my life. And this next point is huge, if we'd known of Isaac's cf I think it would have impaired my confidence during a natural, vaginal childbirth. I was able to handle those contractions with absolutely no worry that anything was wrong with little Isaac. It also would have shook the confidence of my team since they are very proactive and high risk. They would likely have interceeded in the progression of things more then that already did. I delivered a healthy baby 36 hours after my water broke which is taboo in US medicine these days.
Oh and if anyone reads this and thinks "Not me." "I know he's not a carrier" or "I know she's not a carrier." Keep in mind the hospital I go to is top 10 in the US. Here this story. After Isaac's birth and genetic test we wanted to confirm it came from DH so we could encourage his parents to be tested to find out which side it came from. They actively tried to get my husband only to get tested for Isaac's other mutation. We insisted on sequencing...after all we thought if DH has cf we want to know. Why not get the most comprehensive testing available? We asked this question. Then we asked was it due to insurance they weren't encouraging the sequence test? They said, "No, it's because the likelihood of us finding another mutation (other than the one that he passed to Isaac) is not a far out possibility. In fact, it's happening a lot. There are so many mutations out there that have no clinical outcome data because they are so rare. For these people we have nothing to offer them other than the news of the finding. It seems it would be better to not uncover this news when there's nothing it can help." We said, "Thanks for you thoughts. We'll take sequencing anyway." So my point is that them saying it's not uncommon for them to find 2 mutations in a carrier (which you know your child will be b/c you have cf) though blood screening can also be applied to CVS. You have to decide if this information is going to help you? Do the benefits outweigh the risks? You say you'd like to know so you can prepare. <b>What sort of preparation would you do?</b> Being that you have cf you don't have a learning curve to overcome that's for sure. In terms of newborn care, there's not much. They'll give you nebs and train you on cpt for newborns but then its just a wait and see thing (given an asymptomatic diagnosis like Isaac). If your child were to have more classic cf the earliest problem is blocked bowel/meconium illeus which they will see in u/s. It is rare for a newborn to have lung problems at birth. So in my opinion, not sure you asked. I wouldn't pursue CVS if I were you. You could get blood sent away the day of his/her birth for genetic testing and have the results in the first few weeks of birth. In hindsight, I'm glad I didn't have this done either though because week 2 is rough and on day 10 I had mastitis. It would have been my luck that I would have received the news of the 2 mutations right around then. Everything happens for a reason and as you can tell from my post I have no regrets with the way I handled the cf testing. I hope you can be at peace with whatever direction you choose. I'll continue to keep your LO in my thoughts. Are you planning on breastfeeding?
