genetic test in state screen?

[tedandjulie]

I have just about had it with getting questions answered from the medical community! My wife and I are CF carriers and recently gave birth to our daughter. We opted against the amnio test for CF prior to birth. I inquired at length prior to the birth about getting the baby tested immediately after birth. I was told the state screen would check to see if the baby had both genes for CF. We waited anxiously for 14 days to get the results. A nurse called and said everything came back normal and that the baby wasn't even a carrier. Of course we were very happy! Well, wouldn't you know the doctor called us last night and said that the nurse misinformed us and that the state screen didn't cover genetics. Now, he advised a sweat test to be done ASAP. I am aggravated that we were misinformed about the health of our child and also that the screen didn't check for genetics after we were advised it would! I realize sweat tests aren't reliable and that the DNA test is the best. We will persue this but are confused as we thought the state screen would cover that.

My question is: Is it normal for the state screen to not check for genetics? (i.e. does the newborn have the CF gene?) I can't seem to get straight answers here in NJ. This information came directly from our CF center in NJ. I know that most of you in the CF community would know. Thanks.

 

[anonymous]

Most states don't check for CF in newborn screening, although more and more are starting to. You should be able to get your sweat test results right away (within hours) so I would push to get them soon (bc some places will make you wait).

Best Wishes!

 

[Ratatosk]

Our state just started in January, as did the state to our east. Involves a heel stick and they test the blood -- if it shows an indication of CF, then more detailed testing is required. Apparently the tests can show CF if the individual is a carrier.

What IS odd is that according to the CFF website, new jersey has been doing newborn screening since 2004. IMO, I'd demand more extensive testing, bypass the sweat test.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/UploadedFiles/living_with_cf/Files/NBSFinalQALH.pdf
">http://www.cff.org/UploadedFil...iles/NBSFinalQALH.pdf
</a>
Liza

 

[julie]

I agree with lisa, I see that NJ has been doing the newborn screening since 2004 for CF. I understand you are upset and I would be too. I would pursue why the nurse gave you incorrect information and/or why the doctor is telling you that there wasn't a genetic test done on your child because it is MANDATED BY LAW. (The lawyer in me says, HI LAWSUIT!!!!).

So to answer your question, NO it is not normal for YOUR state to not check for genetics. It has been mandated in the state law that those tests will occur at birth (although they are not all inclusive, they only test for markers of CF, not all CF mutations-it's a bit confusing)

I highly support your decision to get a sweat test and a genetic test. Since you and your wife know you are carriers and most likely your mutations are documented somewhere, getting a genetic screening for your daughter should be a fairly simple process.

Best of luck and please keep us posted!

 

[annonymous]

If NJ is like OK, then the newborn screening is a two-tiered test. That means that there are 2 parts to the test. If the baby has an abnormal IRT level in part 1, then DNA testing is done in part 2.
If the baby does not have an abnormal IRT level, then it is not sent on for part two of the test. This would indicate a normal newborn screen for CF.
It sounds like your baby had a normal NBS, which would not indicate CF. Your doc probably wants to do the sweat test to be safe.

 

[anonymous]

I agree with the previous poster. The problem with the newborn screen is that it does not catch every child with cf. I'd say your child passed the newborn screen but because of your carrier status, your dr wants to persue further testing which I think is prudent. Personally, I'd request both a sweat test and a genetic test. The genetic test should be easy since they can just screen for both of the genes you and your spouse carry. Good luck!