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Re: Testing my 2 week old daughter for cf

Re: Testing my 2 week old daughter for cf

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Posted by maxine on January 23, 2000 at 05:19:39:

In Reply to: Testing my 2 week old daughter for cf posted by Victoria on January 22, 2000 at 22:24:47:

: Hello,
: My daughter Olivia was born January 7. There had been some question while I was pregnant as to whether or not Olivia had cystic fibrosis. She had some of the genetic markers (fetal echogenic bowel---shows up as a shiny part in the abdomen and it usually associated with cystic fibrosis or downs syndrome but in some cases can be nothing. Also, she had intrauterine growth retardation---where the baby stops growing towards the end of the pregnancy...also common in cf kids).

: We had genetic testing done and it was inconclusive because I showed up as a carrier and my husband did not but it is believed that he may actually carry one of the mutations that cannot be tested for right now (
: There are more than 100 mutations of the disease and only 70 are able to be tested for) since his sister died of cf years ago.

: Anyway, we were told that Olivia would need a sweat chloride test but now, there is great conflict as to whether or not she is old enough (2 weeks old) or big enough (7 lbs 10 ozs) to have an accurate sweat chloride test done. We have heard from some people that she is old enough now and from others that she would probably have a false negative since she probably couldn't produce enough sweat this young and that it won't be accurate until she is 7 or 8 months old.

: Does anyone know at what age the test becomes accurate? Also, is there another kind of test (other than genetic) that could determine whether or not she has cf?

: Thank you very much,

: Victoria

Hi Victoria,

My daughter, Katie, had a positive sweat test at the age of 6 weeks. At this time she weighed less than her birthweight which was 6lb7oz. All newborns are screened for CF in Australia on day 4, and her test was positive. Further DNA testing confirmed that she was homozygous for the common mutation of the cf gene,delta f508.
I wasn't sure why a sweat test was done when DNA testing had already found that she had CF.
Maybe someone out there may know, I never thought to ask at the time.
So in answer to your question, Olivia's weight shouldn't be an issue as Katie weighed much less. I am certain that you shouldn't have to wait 6-8 months for an answer. You should have the test now and if it is negative and you are still worried ask to have it again.

I hope this has been of some assistance,

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