What should be done when a baby is tested a positive NBS result?

Babies with positive results should be referred at once to the nearest hospital or specialist for confirmatory testing and further management. Should there be no specialist in the area, the NBS secretariat office will assist its attending physician.

Disorder Screened Effects SCREENED Effect if SCREENED and treated
CH (Congenital Hypothyroidism Severe Mental Retardation Normal
CAH (Congenital Adrenal Hyperplasia) Death Alive and Normal
GAL (Galactosemia) Death of Cataracts Alive and Normal
PKU (Phenylketonuria Severe Mental Retardation Normal
G6PD Severe Anemia, Kernicterus Normal