genetic testing?

Question

Wondering what everyone's opinion on the cystic fibrosis screening? How about the sequential testing? I don't have any family history of cf on either side, no down syndrome, autism etc. I have to make a decision by tomorrow and let my Dr know about achedyling these tests... any thoughts? Opinions? I am 50/50 now on the decision.

jward1274 · Answer

Thanks gals. I scheduled the cf screening and passed on the others.. keeping my fingers crossed that i made the right decision.

Jennie1211 · Answer

My DH and I were in a situation where we were screened for CF only because my RE wanted to do it as a precaution before proceeding with IVF (and also because my husband kept coming up with a zero count so he suspected he was a carrier--apparently it's typical that silent carriers also have a particular congenital defect). Anyhow, it turned out that he WAS a silent carrier, which we never would have known, though I am not. There was  no family history at all of it on his side. It's a simple blood test so if it is readily available to you, I'd say do it. 

As far as the other genetic screening, I had it done, but I also agree with the previous poster that you have to take this with a grain of salt. I've had three friends who all came up with false positives (meaning they were labeled as being high risk for Down Syndrome) and then all had perfectly healthy babies. But I still decided to take a chance and have this done in lieu of an amnio since my results were so low. We'll see in about six weeks if those tests were accurate or not!

Ecologic · Answer

A few months ago, I knew close to nothing about CF, now I know a lot. My baby boy has recently been diagnosed with pancreas problems and doctors thought he may have this disease, fortunately his first tests were negative and he probably does not have it, but we’re waiting for the complete genetic results of all the known mutations to be really sure. 

No doctor ever offered that I have the blood test for CF when I was pregnant - there is no CF history in our families... which means nothing. I think it's better to be tested... when it comes to CF the earlier you start treatments the better the survival of the child. So yes I would advise you be tested. Don't worry: you very certainly will be negative, it's a very rare disease!

ChristineMP · Answer

The CF screening my doctor did was just a blood test to see if I carry the gene. If I had tested positive, my husband would have been tested to see if he was a carrier. In order for the baby to have CF, both parents would have to carry the gene. No history of CF in my family...so no surprise the test showed I am not a carrier. It is good info to know tho...just one less thing to worry about (or one more if test positive).

The other testing (screening) I don't find helpful for older women because of the high rate of false positives. The formula used includes our age so no matter what our blood results are, it almost always shows high probability of an issue. A good, detailed ultrasound with an experienced, well trained tech and review by a perinatal specialist is much more helpful.