NEONATAL SCREENING FOR CONGENITAL HYPOTHY REOSIS

In Austria, neonatal screening for congenital hypothyreosis has been i ntroduced since 1976 as a part of the national screening program for i nborn errors of metabolism. Capillary blood spots are collected on fil ter paper from all newborns on day 3 to 5 and are subsequently investi gated with a delayed fluorescence-immunoassay (DELFIA) for the determi nation of TSH. Since 1992 we have detected 105 patients with congenita l hypothyreosis among 365.120 newborns. The recall rate of the primary TSH screening is about 0.35%. Only primary (thyroidal) hypothyreosis, but not secondary and tertiary (pituitary and hypothalamic) types of hypothyreosis are detected by the primary TSH newborn screening. As TS H is physiologically high during the first 2 days of life, the trend t o early hospital discharge will result in a significant increase of th e recall rate in future.