Newborn Screening Flashcards
What kind of sample is used for NBS?
blood spots on filter paper
What is the goal/mission of NBS?
detect severe conditions and treat them prior to their clinical presentation
What is NBS trying to prevent?
reduce or eliminate irreversible damage from happening to children due to these conditions
Is NBS dx?
no, confirmatory testing is required to follow up positive screening results
What does a negative NBS result mean?
reassuring but cannot completely rule anything out (only screening)
What conditions does the Children and Youth branch of NBS screen for?
CF, congenital primary hypothyroidism, congenital adrenal hypoplasia, SCID, SMA, Galactosemia)
Why does NBS have such a high false positive rate for some conditions?
they have low cut offs to make sure they don’t miss anyone (low TSH for CPHypo)
