Neborn with high trypsin level..is this CF?

[urbanxplorer]

My son is 3 weeks old today and we got a call from our doctor to have him tested for CF. His newborn blood screening from the hospital showed an increased trypsin level (143.5) average is <50 ng/ml. He didn't have any genetic mutations noted. We are scheduled to have a sweat test at the lung center at the chidlren's hospital tomorow morning. OUr doctor stated that with the increased sensitivity of the newborn prescreening tests, they have been getting 2-3 children a month who have high trypsin levels but don't test positive for CF on the sweat test. Has this been anyones case? Can you still have CF without showing genetic mutations? Please help!

thanks
urbanxplorer

 

[thefrogprincess]

Cf always comes with genetic mutations, however there are so many different ones that it can take a while to find it. See how the sweat tests comes out, if its boarderline then DEMAND they do more genetic testing. Good luck, let us know how it comes out.

 

[anonymous]

They could not have possibly tested your newborn for genetic mutations because it requires an amount of blood that you wouldn't be able to collect from your newborn. To collect enough blood for the genetic screening, they would have had to get it from the umbilical cord OR wait until your child was older. The trypsin test is nothing definitive and requires further testing (which is what you are doing by having the sweat test).

Word of caution: If your sweat test proves Negative for CF, I recommend having your son retested when he's older (4-6 months). With your son being only 3 weeks, he may not be producing enough sweat to get a valid result.

Good luck!
Jena

 

[anonymous]

Why would you say they couldn't possibly have tested her newborn for mutations. I just had an amnio yesterday at 16 weeks pregnant and they will confirm whether my baby has the mutations prior to birth, they don't need blood. She may have been tested for the common mutations via amnio.
Am I missing something?
Jen

 

[anonymous]

The newborn screen is based on a drop of blood from the newborns ankle. The DNA test requires a vial. The amnio is based off of the amniotic fluid.

 

[urbanxplorer]

First..thanks for all the replys.. We had the sweat test and it was negative! We are so relieved! As for the DNA mutations.. I don't know what was tested, only that my physician told me that he didn't show the mutations. It was the most stressfule two days of my life and we are so blessed to have a healthy child. It really makes you treasure every day with your children because you never can predict tomorrow. Good luck to each and everyone of you out there in our boat or who are living with a child with CF.. We wish you a long life of wellness and love.
urbanxplorer