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首页> 外文期刊>Canadian Medical Association Journal: Journal de l'Association Medicale Canadienne >Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada
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Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada

机译：一个普遍的产前筛查的性能程序将胎儿游离DNA分析在安大略省,加拿大

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Background: The emergence of cell-free fetal DNA (cfDNA) testing technology has disrupted the landscape of prenatal screening for trisomies 21 (T21) and 18 (T18). Publicly funded systems around the world are grappling with how to best integrate this more accurate but costly technology, as there is limited evidence about its incremental value in real-world conditions. The objectives of this study were to describe the population-based performance of Ontario’s prenatal screening program, which incorporates publicly funded cfDNA screening for specific indications, and the effect of cfDNA testing on the screening and diagnostic choices made by pregnant people.Methods: We conducted a retrospective, descriptive cohort study using routinely collected data from Better Outcomes & Registry Network (BORN) Ontario, which captures linked population data for prenatal and neonatal health encounters across Ontario. We included all singleton pregnancies with an estimated due date between Sept 1, 2016, and Mar. 31, 2019, that underwent publicly funded prenatal screening in Ontario, and a comparison cohort from Apr. 1,2012, and Mar. 31,2013.We assessed performance of the screening program for the detection of T21 or T18 by calculating sensitivity, specificity, positive predictive value and negative predictive value against diagnostic cytogenetic results or birth outcomes. We assessed the impact of the program by calculating the proportion of T21 screen-positive pregnancies undergoing subsequent cfDNA screening and invasive prenatal diagnostic testing.
机译：背景:胎儿游离DNA的出现(cfDNA)测试技术已经扰乱了产前筛查的预断21(T21)和18 (T18)。世界各地也面临着如何最好地这更准确但昂贵的集成技术,有有限的证据在现实条件下其增量值。本研究的目的是描述安大略省的以人群为基础的性能产前筛查程序,包含了公共资金资助cfDNA筛查具体迹象,cfDNA测试的影响筛查和诊断的选择了怀孕的人。回顾,使用描述性的队列研究定期收集数据和更好的结果安大略省注册网络(出生),捕获有关产前和新生儿的人口数据健康遇到在安大略省。单例妊娠,估计到期日期9月1日开始,至2016年3月31日,2019年接受公共资金资助的产前筛查安大略,并从4月比较队列。2012和2013年3月31日。T21的筛查项目的检测或T18通过计算敏感性,特异性,阳性预测值和阴性预测对细胞遗传学诊断结果或价值生的结果。程序通过计算T21的比例screen-positive怀孕经历之后cfDNA筛查和侵入性产前诊断测试。

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