Detection of neonatal hypothyroidism in Switzerland by TSH determination using filter paper blood samples

Abstract

TSH radioimmunoassay has been adapted for the determination in dried blood spotted on filter paper (disc Ø6.5mm = 10 μl blood, sensitivity 12 μU/ml, processing time 40 hours). This test has been introduced in our screening program for metabolic diseases on January 1, 1977. Since April 1977, 90% of all children born in Switzerland are included.

Of 18'800 infants tested routinely on their 5th day of life, seven cases with primary hypothyroidism were discovered owing to excessive blood TSH ( 100 μU/ml). The diagnosis was not recognized clinically although all 7 infants showed some symptoms. T4 therapy has been started within their second week of life. There were no false positive results. The incidence of 1 in 2700 newborns is higher than reported so far. It has to be shown whether this is due to genetic or geographic factors, to the occurance of transitory forms, or to a more complete ascertainment by the TSH (versus T4) assay.

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