Results of a screening project for congenital hypothyroidism in 4 years of experience

: A screening program for congenital hypothyroidism has been starting in Siena since November, 1977 with the Guthrie's test for PKU. According to the recommendations of the Committee of the European Thyroid Association the program were performed on capillary blood samples collected between the fourth and sixth days after birth on an adsorbent paper. The screening began with the measurement of T4 RIA (up to May, 1980), and T4 and TSH RIA (from may, 1980, to december, 1981). At december, 1981, 23.693 newborns have been screened. The recall rate was 2,5% up to may, 1980, and 0,11% from may, 1980 to december, 1981. Ten newborns with congenital hypothyroidism have been detected; the incidence is one in 2.400 live births. There were no cases of transient hypothyroidism and no cases of TBG deficiency. All patients are treated before the age of one month. The diagnosis is confirmed in seven cases at one year of life after stopterapy for one month. Our program confirm the high incidence of congenital hypothyroidism. Clinical control, based on physical and psychomotor development testing in seven patients treated confirmed that all infants are normal.