Maniatis Aristides K, Taylor Laura, Letson G William, Bloch Clifford A, Kappy Michael S, Zeitler Phil
The Children's Hospital of Denver, Department of Endocrinology, University of Colorado Health Sciences Center, CO 80218, USA.
J Pediatr Endocrinol Metab. 2006 Jan;19(1):31-8. doi: 10.1515/jpem.2006.19.1.31.
To evaluate the effectiveness of a second newborn screening for congenital hypothyroidism (CH).
All infants born in Colorado, USA, from July 1996 through June 2004 had a total thyroxine measured with secondary thyroid stimulating hormone determination.
The number of first and second newborn screens completed was 494,324 and 471,877, respectively. The first screen identified 185 cases of CH (incidence of 1:2,703). The second screen identified an additional 42 cases. Overall, the incidence based on both the first and second screenings was 1:2,174. The false negative rate for the first screen was 15.6%. In the absence of a second screen, one infant with CH out of every 11,111 babies screened would have been missed. The addition of the second screen increased the cost-per-case identified from dollars 6,108 to dollars 9,730.
With only one newborn screen for CH, the number of missed cases is significant and higher than previously reported.
评估先天性甲状腺功能减退症（CH）二次新生儿筛查的有效性。
对1996年7月至2004年6月在美国科罗拉多州出生的所有婴儿进行总甲状腺素测定及继发性促甲状腺激素检测。
首次和二次新生儿筛查完成的数量分别为494,324例和471,877例。首次筛查确诊185例CH（发病率为1:2,703）。二次筛查又确诊42例。总体而言，基于首次和二次筛查的发病率为1:2,174。首次筛查的假阴性率为15.6%。若不进行二次筛查，每11,111名接受筛查的婴儿中就会有1例CH患儿漏诊。增加二次筛查使每确诊一例的成本从6,108美元增至9,730美元。
仅进行一次CH新生儿筛查，漏诊病例数量可观且高于先前报道。
