UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake
UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake
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DOI：
10.1002/uog.14683
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发表时间：
2015-01-01
影响因子：
7.1
通讯作者：
Nicolaides, K. H.
中科院分区：
文献类型：
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作者：
Gil, M. M.;Giunta, G.;Nicolaides, K. H.
目的：本研究报告了临床实施无细胞DNA （cfDNA）测试，根据联合测试的结果，筛查胎儿21、18和13三体在两家英国国家卫生服务医院。联合检测风险为1:100（高风险）的妇女可选择绒毛膜绒毛取样（CVS）、cfDNA检测或不进行进一步检测，风险为1:101至1:2500（中等风险）的妇女可选择cfDNA检测或不进行进一步检测。该研究的目的是研究影响患者选择的因素。方法对6651例单胎妊娠进行联合筛查，其中三体风险高260例（3.9%），中2017例（30.3%），低4374例（65.8%）。采用Logistic回归分析确定产妇特征、胎儿颈透厚度（NT）和三体风险中哪些因素是高危组选择CVS和中危组选择cfDNA检测的显著预测因素。结果高危组有104例（40.0%）选择CVS；CVS的预测因子为胎儿NT增加和三体风险增加，而非裔加勒比血统的预测因子为CVS的预测因子（r = 0.366）。在中等风险组中，1850名（91.7%）女性选择了cfDNA检测；cfDNA检测的预测因子为母亲年龄增加、三体患病风险增加和大学教育程度，而cfDNA检测的预测因子为加勒比非洲裔、吸烟和已生育（r = 0.105）。结论：本研究已经确定了能够影响接受联合筛查的妇女决定支持或反对CVS和支持或反对cfDNA检测的因素。版权所有2014isuog由John Wiley & Sons Ltd出版。
ObjectiveThis study reports on the clinical implementation of cell-free DNA (cfDNA) testing, contingent on the results of the combined test, in screening for fetal trisomies 21, 18 and 13 in two UK National Health Service hospitals. Women with a combined-test risk of 1:100 (high risk) were offered the options of chorionic villus sampling (CVS), cfDNA testing or no further testing and those with a risk of 1:101 to 1:2500 (intermediate risk) were offered cfDNA or no further testing. The objective of the study was to examine the factors affecting patient decisions concerning their options.MethodsCombined screening was performed in 6651 singleton pregnancies in which the risk for trisomies was high in 260 (3.9%), intermediate in 2017 (30.3%) and low in 4374 (65.8%). Logistic regression analysis was used to determine which factors among maternal characteristics, fetal nuchal translucency thickness (NT) and risk for trisomies were significant predictors of opting for CVS in the high-risk group and opting for cfDNA testing in the intermediate-risk group.ResultsIn the high-risk group, 104 (40.0%) women opted for CVS; predictors for CVS were increasing fetal NT and increasing risk for trisomies, while the predictor against CVS was being of Afro-Caribbean racial origin (r = 0.366). In the intermediate-risk group, 1850 (91.7%) women opted for cfDNA testing; predictors for cfDNA testing were increasing maternal age, increasing risk for trisomies and university education, while predictors against cfDNA testing were being of Afro-Caribbean racial origin, smoking and being parous (r = 0.105).ConclusionsThis study has identified factors that can influence the decision of women undergoing combined screening in favor of or against CVS and in favor of or against cfDNA testing. Copyright (c) 2014 ISUOG. Published by John Wiley & Sons Ltd.