Master's in Genetic Counseling (MGC)

Congenital Hypothyroidism Screening in West Virginia

Screening for congenital hypothyroidism in the state of West Virginia is performed by radioimmunoassays for thyroxine (T4) from all filter paper blood spots and for thyroid stimulating hormone (TSH) on specimens that are in the lowest 10% of that day's T4 run. Diagnostic testing consists of repeat T4 and TSH measurements on serum. Additional thyroid studies may be requested under the direction of a pediatric endocrinologist.

The follow-up recommendations for congenital hypothyroidism screens in the state of West Virginia are as follows:

Newborn Screening Result Interpretation Follow-Up Action Recommended
Low T4, but intermediate or normal TSH
  • prematurity (hypothalamic immaturity)
  • hypothyroxemia secondary to thyroid binding globulin deficiency or hypopituitarism
  • primary hypothyroidism with delayed TSH elevation
A repeat filter paper specimen is required. Repeat assays of T4 and, if indicated, TSH, will be performed. If the repeat filter paper test results are consistent with the initial results, referral to a pediatric endocrinology consultant is recommended.
Low T4 (<4 ug/dl), but intermediate or normal TSH on a full term infant
  • hypothyroxemia secondary to thyroid binding globulin deficiency or hypopituitarism
  • primary hypothyroidism with delayed TSH elevation
Immediate referral to a pediatric endocrinology consultant is recommended. Additional testing should be performed under the direction of the specialist.
Low T4 and elevated TSH (>50 uIU/ml) probable primary hypothyroidism Immediate referral to a pediatric endocrinology consultant for serum confirmatory testing is recommended. Treatment may begin as soon as the blood sample for confirmatory testing is obtained, pending confirmation of the abnormal results.

Guidelines For Infants >28 Days

Newborn Screening Result Interpretation Follow-Up Action Recommended
Low T4 (< 4 ug/ml) abnormal result The child should be referred to a pediatric endocrinology consultant for further testing and treatment if indicated.

 

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West Virginia Consultants

 

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