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Newborn Screening ACT Sheet

[Low T4 and/or elevated TSH (Primary T4 follow- up TSH test)]
Congenital Hypothyroidism

Differential Diagnosis: Primary and secondary congenital hypothyroidism (CH), transient CH, thyroxine binding globulin (TBG) deficiency.

Condition Description: Lack of adequate thyroid hormone production..


  • Contact family to inform them of the newborn screening test result.
  • Consult pediatric endocrinologist; refer to endocrinologist if considered appropriate.
  • Evaluate infant (see clinical considerations below).
  • Initiate timely confirmatory/diagnostic testing as recommended by the specialist.
  • Initiate treatment as recommended by consultant as soon as possible.
  • Educate parents/caregivers that hormone replacement prevents mental retardation.
  • Report findings to newborn screening program.

Diagnostic Evaluation:

Diagnostic tests should include serum free T4 and thyroid stimulating hormone (TSH); consultant may also recommend total T4 and T3 resin uptake. Test results include reduced free T4 and elevated TSH in primary hypothyroidism; if done, reduced total T4 and low or normal T3 resin uptake

Clinical Considerations:

Most neonates are asymptomatic, though a few can manifest some clinical features, such as prolonged jaundice, puffy facies, large fontanels, macroglossia and umbilical hernia. Untreated congenital hypothyroidism results in developmental delay or mental retardation and poor growth.

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