Master's in Genetic Counseling (MGC)

Congenital Hypothyroidism Screening in Delaware

Screening for congenital hypothyroidism in the state of Delaware is performed by an initial T4 (thyroxine) assay. The 10% of samples with the lowest T4 results are further tested by a screening TSH assay. Diagnostic testing consists of repeat T4 and TSH measurements in a liquid blood sample.

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
normal T4, normal TSH	normal	none
normal T4, abnormal TSH	abnormal result	A repeat filter paper specimen is requested. If the repeat specimen is abnormal, definitive testing is requested (within 5 days if only TSH or only T4 is abnormal, within 24 hours if both T4 and TSH are abnormal). If definitive testing is abnormal, referral to a pediatric endocrinology consultant is recommended.
abnormal T4, normal TSH	abnormal result	A repeat filter paper specimen is requested. If the repeat specimen is abnormal, definitive testing is requested (within 5 days if only TSH or only T4 is abnormal, within 24 hours if both T4 and TSH are abnormal). If definitive testing is abnormal, referral to a pediatric endocrinology consultant is recommended.
abnormal T4, abnormal TSH	abnormal result	The infant should be examined and definitive testing performed within 24 hours. If definitive testing is abnormal, referral to a pediatric endocrinology consultant is recommended.

NOTE: In cases in which the t4 is unequivocally low and the tsh is unequivocally elevated, treatment can begin as soon as the serum is obtained for definitive testing, pending final confirmation.

 

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