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Table 5-3

Area of ConcernScreening MethodRecommendations
Neonatal metabolic and genetic screening:
Hypothyroidism Sickle cell anemia PKU
Blood tests:
  • Serum T3/T4 levels ↓ 
  • Sickledex ↓ 
  • Phenylalanine levels ↓ 
All are done in immediate neonatal period, within first few days of life. Testing for PKU must be done after infant has ingested formula or breast milk for 48–72 hours.
Lead poisoning (see Table 5-2. Child Preventive Care Timeline )Blood lead level (BLL)Centers for Disease Control and Prevention (CDC) recommends universal or targeted screening for all children.
  • At a minimum, all children should have BLL drawn between 1–2 years, or earlier if needed.
  • BLL should also be done on any child between 3–6 years who has never been tested.
  • Those children at high risk (e.g., live in older home with lead in paint and plumbing, have sibling or friend with lead poisoning) should be screened earlier and more frequently.
HyperlipidemiaSerum cholesterol levels
  • Routinely at 2–4 years, 6 years, 10 years, 11–14 years, 15–17 years, and 18–21 years.
  • May be done earlier or more frequently with risk factors such as diabetes, hypertension, parent with high cholesterol level.
Cystic fibrosisGenetic studies, sweat test
  • Screen children who have sibling or other family members with CF.
  • Screen family members of child with CF.
TuberculosisMantoux or PPDFirst test done at age 12–15 months; repeated prn based on risk and exposure.
Latex allergiesHealth historyDuring each routine visit, but especially important preoperatively or before procedures or children with ongoing urinary catheterizations (e.g., in myelomeningocele).