Neonatal screen - dried blood spot
Last updated: Friday, 19, March, 2004
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Blood absorbed onto special paper at 4 days of age, or at discharge (if earlier than 4 days).
Diseases commonly screened for include:
| Reference Interval|
Varies with method.
Cut off value is set at an appropriate figure to avoid false negatives.
Population screening for severe, treatable diseases (usually phenylketonuria, hypothyroidism, cystic fibrosis, galactosaemia).
Positive results require follow-up for definitive diagnosis.
False negatives are very rare.
Hypothyroidism due to hypopituitarism is not detected by a TSH screen, but the clinician is usually alerted to this possibility by clinical signs of intracranial disease.
Brown ARD. Clin Biochem Revs 1985; 6: 3-13.