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Are the false positive NICU babies newborns that are low birth weight or are they term infants who are seriously ill? Are you seeing any transfusion impacts? Thank you!
I should pull data for this and I'll work on that. If I can share I'll forward to Jelili. It's my impression that the false positives are less dependent on birth weight than some of the other false positive disorders such as the IVA.
@ Kim - what was the age at collection of the second screen for the true(+) case? Do second screens have lower GUAC levels than firsts?
What percent of babies who had an out of range GAMT testing on first screen had a normal second screen for GAMT?
Again, I don't have a percentage, but for NYS I would say most of them. Almost of our requests for repeat samples resolve as screen negative rather than a referral.
Without treatment, the GUAC will not get anywhere near the normal range despite the drop between the first and second screens. The families I know that start treatment after clinical diagnosis have had a GUAC between 9-22.
@Mark, did you say babies are referred after a positive second (or now first) screen, and not waiting for DNA? If so, would more than 6 babies have been referred? Or did I miss understand something? Thanks!
Hi Tory, We refer regardless of whether or not variants are detected. In 2021, we tested 6 by DNA and all were referred. There were no additional referrals.
The decision is on the second tier screen (now first tier) and the DNA is supplemental. So the six referrals are six samples over the cut-off of 5 for GUAC and 12 for GUAC*1000/Cre. Waiting for the DNA is somewhat situational. For a normal baby with no NICU we might wait the extra day to have the DNA data. For a NICU baby we generally make the call right away so the Doc's can have our information, even if it is not GAMT deficiency.
Got it! Thanks
ACHDNC meeting info: https://www.hrsa.gov/advisory-committees/heritable-disorders/index.html
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Thank you Sikha and Ruthanne!