Newborn Screening CAH

[crowderkb]

This site has been such a wealth of information and support I thought it may be a good place to ask. My daughter was born at 37 weeks about 2 1/2 months ago. I just got a phone call from the doctor to say that she has elevated CAH levels. This is one of the screenings they do with the heel prick a birth. We are scheduled to have follow-up blood work done tomorrow, but I am left with questions. Is it likely a false positive? Why are they only telling me now? Isn't it a very life threatening disease that should have been diagnosed hours after birth, not months?
Just feeling anxious and trying to not overreact about it.
Thanks!

[trish]

With my 2nd DD we got a call about a month after she was born that we needed to do follow up bloodwork ASAP based on a finding from her new born screening. We went & it turned out to be a false positive - no issues. Hope all is fine with your new one!

[heather j]

I hope you have some answers by now! We got a phone call from our pediatrician when Oliver was a few (maybe three?) weeks old to tell us that one of the levels from his PKU test was elevated and that he'd need to be retested. Each state has a different list of conditions that they choose to "screen" for, and there are a range of conditions that all states test for. The paper they use is highly sensitive and can be rejected for a number of reasons including a blood sample that doesn't fall within the dots on the paper correctly. According to what I read (and what our nurse told us), the sample is often taken to soon following delivery because of the short hospital stays for most moms/babies. In our case, Oliver had an elevated thyroid level,and our doctor told us *most* of the time, this level will drop during the first six weeks and is usually retested at no sooner than 7 weeks. Our state felt otherwise and wanted it down ASAP so we had him retested (this time along with a blood draw from his arm to check his actual thyroid level as well as another PKU. His levels still came back elevated. Our ped still felt pretty confident and wanted him retested a week later. After a series of lab errors and multiple blood draws (grrrrrrr...), his levels fell within normal range. All this to say, *most* of the time, it's a false positive or a result of not gathering a good enough sample. To say I was an emotional basket case would be a huge understatement. Please let us know what you find out. Keeping you and your baby in my thoughts that everything checks out just fine. (((hugs)))