Cystic Fibrosis Center, Verona Hospital, Piazzale Stefani 1, 37126 Verona, Italy.
JAMA. 2009 Dec 16;302(23):2573-9. doi: 10.1001/jama.2009.1758.
A downward trend in cystic fibrosis (CF) birth incidence has been reported in some areas.
To evaluate the association between carrier screening and CF birth incidence.
DESIGN, SETTING, AND PARTICIPANTS: In northeastern Italy, CF birth incidence is monitored by means of a long-standing neonatal screening program. In the same area, 2 sections using different carrier detection approaches were identified--the western region, in which CF carrier tests are offered only to relatives of patients or to couples planning in vitro fertilization; and the eastern region, in which carrier testing is offered to relatives and carrier screening to infertile couples and to couples of reproductive age. A total of 779,631 newborns underwent CF neonatal screening between January 1993 and December 2007, of whom 195 had CF detected.
Cystic fibrosis birth incidence in the 2 regions.
A time-related decrease in birth incidence was found, with a mean annual percentage decrease of 0.16 per 10,000 neonates (P < .001). In the western region, 2559 carrier tests were performed, 314 carriers were identified, and 9 carrier couples were detected. In the eastern region, 87,025 carrier tests were performed, 3650 carriers were identified, and 82 carrier couples were detected. The birth rate decrease was greater in the eastern region (decrease rate, 0.24; 95% confidence interval [CI], 0.12-0.36) than in the western region (decrease rate, 0.04; 95% CI, -0.16 to 0.08; P = .01). The increase in the number of screened carriers over time was significantly correlated with the decrease in CF birth incidence (correlation coefficient = -0.53; 95% CI, -0.20 to -0.74; P = .003).
In northeastern Italy, carrier screening was associated with a decrease in the incidence of CF.
在一些地区，囊性纤维化（CF）的出生率呈下降趋势。
评估携带者筛查与 CF 出生率之间的关系。
设计、地点和参与者：在意大利东北部，CF 的出生率通过一项长期的新生儿筛查计划进行监测。在同一地区，确定了两个使用不同携带者检测方法的区域——西部地区，仅向患者的亲属或计划进行体外受精的夫妇提供 CF 携带者检测；以及东部地区，向亲属提供携带者检测，向不孕夫妇和育龄夫妇提供携带者筛查。共有 779631 名新生儿在 1993 年 1 月至 2007 年 12 月期间接受了 CF 新生儿筛查，其中 195 名被检出患有 CF。
两个地区的 CF 出生率。
发现出生率呈时间相关下降，每 10000 名新生儿的年平均百分比下降 0.16（P<.001）。在西部地区，进行了 2559 次携带者检测，发现 314 名携带者，发现 9 对携带者夫妇。在东部地区，进行了 87025 次携带者检测，发现 3650 名携带者，发现 82 对携带者夫妇。东部地区的出生率下降幅度大于西部地区（下降率为 0.24；95%置信区间[CI]，0.12-0.36）（下降率为 0.04；95%CI，-0.16 至 0.08；P=0.01）。随着时间的推移，筛查携带者的数量增加与 CF 出生率下降显著相关（相关系数=-0.53；95%CI，-0.20 至-0.74；P=0.003）。
在意大利东北部，携带者筛查与 CF 发病率的下降有关。
