Infant daughter inconclusive newborn screening

[Rstone]

My 5 month old daughter had an inconclusive newborn screening. She is a bit on the small side, but my husband and I are smaller and she is EBF. She has no gastro issues and does not taste salty. She caught a virus 10 days ago though and is still coughing. Tonight her spit up was a bit frothy. My oldest daughter is 3 and has had bronchitis three times and pneumonia once in 12 months. She has asthma and received a negative sweat test a few months ago. Today, she received the DNA panel to officially rule it out but we won't receive the results for 5 weeks. The doctor said not to worry but I am very concerned. Does it sound like I should be? What were the first symptoms to appear in infants? Thank you in advance.

 

[Printer]

Rstone:

I saw this question hanging here without a reply and I didn't want you to feel unwelcome here.

There are almost 2000 known CF mutations, any two will cause CF. Newborn screenings, usually, only test for the most common 32 mutations. You do the math. Inconclusive only means that they don't know if your 5 mo old has a second mutation, or not.

Because there are so many combinations of mutations, there are millions of CF "strains" each being very different.

I agree with your Doctor, don't worry.

Bill