Berardi R, Baracchi M R, Borgogni P, Margollicci M A, Mattei R, Fois A
Pediatr Med Chir. 1982 Nov-Dec;4(6):657-60.
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.
自1977年11月起，锡耶纳就开始了一项先天性甲状腺功能减退症筛查项目，采用针对苯丙酮尿症的古思里试验。根据欧洲甲状腺协会委员会的建议，该项目在出生后第四至第六天采集的吸附纸上的毛细血管血样上进行。筛查最初采用T4放射免疫分析（截至1980年5月），之后采用T4和TSH放射免疫分析（从1980年5月至1981年12月）。到1981年12月，已筛查23693名新生儿。截至1980年5月召回率为2.5%，1980年5月至1981年12月为0.11%。已检测出10例先天性甲状腺功能减退症新生儿；发病率为每2400例活产中有1例。无暂时性甲状腺功能减退病例，也无甲状腺结合球蛋白缺乏病例。所有患者均在1个月龄前接受治疗。在停药1个月后的1岁时，7例患者确诊。我们的项目证实了先天性甲状腺功能减退症的高发病率。对7例接受治疗的患者进行基于身体和精神运动发育测试的临床对照，结果证实所有婴儿均正常。
