NBS

• Newborn Screening - detects if infants has heritable congenital metabolic disorder
• Newborn Screening act of 2004 (RA 9288) protects right of children to survival and full and healthy development as normal individual
• Ideal time: 48-72 hrs after birth
• standard 6 test:

  • congenital hyperthyroidism
  • congenital adrenal hyperplasia
  • phenylkentonuria
  • G6PD
  • galactosemia
  • maple syrup urine diseasephenylketonuria
• Congenital adrenal hyperplasia

  • high levels of male sex hormone
  • salt-washing CAH - most common
  • simple virilizing CAH
• G6PD - lead to severe anemia and hyperbilirubinemia
• galactosemia - inability to produce galactose that produce energy
• maple syrup urine disease - cannot break down branched amino acids