guthrie test

anonymous

New member
Hi could anyone please tell me how accurate the guthrie test is. My little one's test came back over their boarder line he was retested a couple of weeks later and this test came back as him been ok. Whats worrying me is he was born with Jejunal Atresia, which I have read can be linked with CF, he also has a mild anul prolaps, esp when he is straning, he had a bout of crop 6 weeks ago and has never fully gotten over it, he's got an awful cough which is wores at night and a terrible runny nose always bunged up. When he opens his bowels he does loads and they are either shiny or sometimes really coated in 'slime' and VERY smelly. He eats like a horse but only puts very small amounts of weight on. his weight gain on the chart is ok just a few hicups, but I just think that for the amount of food he eats he should be putting loads of weight on.He's 9 months now, sorry if I appear to be a bit of a drama queen!!!!!!but I am getting worried so anyone with any advice or experiance of this I would really appreciate any thing you could tell me.Thanks very muchV x<img src="i/expressions/face-icon-small-confused.gif" border="0">
 

anonymous

New member
Hon, you should post this question in the adults or families section, this FAQ's I believe is for people to ask the administrator questions about the site. You will probably get a lot more responses on the adults or families section than here. I wish I could answer your question but I don't know in this situation, other than you should get a sweat test and a blood test on him.
 

anonymous

New member
This is the adult forum, but I think you should post it in the family forum to get more replies!! Sounds like you have alot of CF symptoms, I have never heard of the Jejunal Atresia, and dont know what it is so I cant help you on that one. I am not real familiar in the testing side of CF because my girls were born with meconium Ileous so we knew they had it! So what do they say is causing this if it is not CF? Have you and the father been tested to see if you are carriers?
 

NoDayButToday

New member
I can't tell you how accurate the Guthrie test is, since I personally have never heard of it. If anyone could tell me what it is exactly, I'd appreciate it <img src="i/expressions/face-icon-small-smile.gif" border="0">. Ambry blood genetics tests are very accurate, as are sweat tests. His symptoms do sound like typical CF symptoms, and I certainly don't think you are being a drama queen, especially since he was born with jejunal atresia.
If I were in your shoes, I would get to my pediatrician ASAP and request (and if they say no, DEMAND) a sweat test and possibly a genetic blood test. Sweat tests are painless, they stimulate an area of the patient's skin and measure the sodium and chloride in their sweat.
 
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luke

Guest
The Guthrie test is a set of newborn screenings utilizing the metabolism of bacteria to do a "quick" test for seveal disorders. It was originally found to diagnose a type of mental retardation. I have never worked in a "baby" hospital so I have no first hand knowledge of the test. I would imagine it would matter how it was positive on what disease may be present. Either way if CF is in question, genetic testing is a must.


luke
 
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