6. Screening tests in neonates.

Page created on February 27, 2022. Not updated since.

The screening tests performed in neonates may vary from country to country, but these are the most common tests. In Norway, 26 disorders are screened for. In New York, 60. Most of these disorders are inborn errors of metabolism.

  • Blood test (from heel puncture, 48 hours after birth)
    • Congenital hypothyroidism – by measuring TSH
    • Cystic fibrosis – by measuring serum immunoreactive trypsinogen
    • Haemoglobinopathies (sickle cell, thalassaemia)
    • Congenital adrenal hyperplasia
    • Inborn errors of metabolism (phenylketonuria, maple syrup urine disease, homocystinuria, +++)
    • Primary immunodeficiency (SCID)
    • Spinal muscular atrophy (SMA)
  • Hearing – by otoacoustic emissions or brainstem evoked response
  • Vision – by physical examination (look for red reflex, a sign of cataract)
  • Oxygen saturation – for duct-dependent congenital heart disease
  • Developmental dysplasia of the hip – by physical examination (Barlow/Ortolani test)

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