Association Between Carrier Screening and Incidence of Cystic Fibrosis
Association Between Carrier Screening and Incidence of Cystic Fibrosis
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DOI：
10.1001/jama.2009.1758
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发表时间：
2009-12-16
影响因子：
120.7
通讯作者：
Assael, Baroukh Maurice
中科院分区：
文献类型：
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作者：
Castellani, Carlo;Picci, Luigi;Assael, Baroukh Maurice
据报道，在一些地区囊性纤维化（CF）的出生发病率呈下降趋势。目的探讨携带者筛查与CF出生发生率的关系。设计、环境和参与者在意大利东北部，CF的出生发生率是通过长期的新生儿筛查项目来监测的。在同一地区，确定了2个采用不同载体检测方法的切片：西部地区，仅向患者亲属或计划体外受精的夫妇提供CF载体检测；在东部地区，对亲属进行携带者检测，对不育夫妇和育龄夫妇进行携带者筛查。1993年1月至2007年12月，共有779631名新生儿接受了CF新生儿筛查，其中195名被检测出CF。主要观察指标：2个地区囊性纤维化新生儿发生率。结果出生发生率与时间相关，年平均下降0.16 / 10000 （P < 0.001）。西部地区共开展2559例带菌者试验，鉴定出314例带菌者，检测出9对带菌者。在东部地区，进行了87 025次携带者测试，确定了3650名携带者，检测到82对携带者。东部地区的出生率下降幅度（下降率为0.24,95%可信区间[CI]为0.12-0.36）大于西部地区（下降率为0.04,95% CI为-0.16 ~ 0.08,P = 0.01）。随着时间的推移，筛查携带者数量的增加与CF出生发生率的降低显著相关（相关系数=-0.53;95% CI, -0.20 ~ -0.74; P = 0.003）。结论：在意大利东北部，携带者筛查与CF. JAMA发病率的降低有关。2009年;302 (23): 2573 - 2579
Context A downward trend in cystic fibrosis (CF) birth incidence has been reported in some areas.Objective 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.Main Outcome Measure Cystic fibrosis birth incidence in the 2 regions.Results 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).Conclusion In northeastern Italy, carrier screening was associated with a decrease in the incidence of CF. JAMA. 2009;302(23):2573-2579