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Newborn Screening
REPUBLIC ACT NO. 9288
Newborn Screening Act of 2004
1. CONGENITAL HYPOTHYROIDISM
Thyroid hypofunction or enzyme defect reduced T3, T4
Females
S/sx: excessive sleeping, enlarged tongue, noisy
respiration, poor suck, cold extremities, slow pulse and
respiratory rate, lethargy and fatigue, short and thick
neck, dull expression, open mouthed, slow DTR, obesity,
brittle hair, delayed dentition, dry, scaly skin
Dx: low T3 T4, inc TSH
Mx: synthetic thyroid hormone
Nsg Care: Assist parents administer drugs
2. CONGENITAL ADRENAL HYPERPLASIA
-inability to synthesize cortisol inc ACTH stimulate
adrenal glands to enlarge inc androgen
S/sx: musculinazation, sexual precocity
Mx: Steroids to dec stimulation of ACTH
3. G6PD DEFICIENCY
- reduction in the levels of the enzyme G6PD in RBC leads
to hemolysis of the cell upon exposure to oxidative stress
Dx: blood smear heinz bodies
rapid enzyme screening test, electrophoresis
Mx: avoid drugs ie ASA, sulfonamides, antimalarials, fava
beans
4. GALACTOSEMIA
(-) enzyme that converts galactose to glucose
S/sx: wt loss, vomiting, hepatosplenomegaly, jaundice and
cataract
Dx: Beutler test
Tx: dec lactose soy based formula
regulate diet
5. PHENYLKETONURIA (PKU)
- dec phenylalanine hydroxylase w/c converts
phenylalanine to tyrosine
S/sx: mental retardation, musty odor, blond hair, blue
eyes
Dx: Guthrie bld test
Tx: dec phenylalanine (Lofenalac)
regulate diet