Master's in Genetic Counseling (MGC)

Congenital Hypothyroidism Screening in Pennsylvania

Screening for congenital hypothyroidism in the state of Pennsylvania is performed by radioimmunoassay methods as specified by the Pennsylvania Bureau of Laboratories. Screening is performed in duplicate on filter paper blood spots from which the level of thyroxine (T4) is determined. The level of thyroid stimulating hormone (TSH) is determined in duplicate on all filter paper blood spots whose initial T4 values are below a cut off level established by the Pennsylvania Bureau of Laboratories. TSH determinations shall be performed on 20% of the daily specimen workload. A serum analysis is required for diagnostic testing

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
T4 >6 mg/dl, TSH <25 uIU/ml	normal	none
TSH >25 uIU/ml, but <35 uIU/ml	abnormal result	A serum sample for diagnostic testing is required, along with possible referral to a pediatric endocrinologist.
TSH >50 uIU/ml	abnormal result	A serum sample for diagnostic testing, along with referral to a pediatric endocrinologist, is required.

Any specimens yielding abnormal or inconclusive results, unacceptable specimens, or any specimens collected before 24 hours after birth that yield a normal result require a repeat filter paper specimen to be collected immediately.

Return to Congenital Hypothyroidism / State Screening Program Contacts /
Pennsylvania Consultants

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