NBS Screening

Question 1

Why do screening? General

Answer 1

Identify risk factors for disease or early presence of disease in which early treatment improves outcomes

Figure out frequency is population

Screen if a particular family is at risk

Question 2

What does high sensitivity mean?

Answer 2

Very low false negative rate…

Consequence is that its only adequate low false positive rate

Question 3

Is screening enough to diagnose?

Answer 3

NO, you dingus

Question 4

Fetal screening

Answer 4

Need to wait until can get ample amount of fetal blood in the sample…and not just maternal

Question 5

Multi-tiered screening

Answer 5

An initial test followed by others if there is a positive

To confirm results usually

Question 6

Guthrie Test

Answer 6

Screen for PKU

Blood —> in culture with inhibitor that can only be overcome with high levels of Phenylalanine

Question 7

Tandem mass spec

Answer 7

Can pick up anabolites of 30-40 diseases

Question 8

Incidence of inborn errors of metabolism

Answer 8

1:4000

Question 9

Things to consider before screening

Answer 9

Age of the child

Physiologic condition - if child is premature, you might have to consider screening before doing certain procedures that might interfere with results