ADAM 12 may be used to reduce the false positive rate of first trimester combined screening for Down syndrome
ADAM 12 may be used to reduce the false positive rate of first trimester combined screening for Down syndrome
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DOI：
10.1002/pd.2405
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发表时间：
2010-02-01
影响因子：
3
通讯作者：
Larsen, Torben
中科院分区：
文献类型：
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作者：
Christiansen, Michael;Pihl, Kasper;Larsen, Torben
背景 ADAM 12 已被证明是孕早期唐氏综合症 (DS) 的有效母体血清标志物；但最近使用第二代检测的研究尚未证实这些发现。我们检查了第二代 ADAM 12 检测的效率。材料和方法 使用新型 Research Delfia(R) ADAM12 试剂盒测定了 28 名妊娠早期 DS 和 503 名对照妊娠的 ADAM12 浓度。建立了 ADAM12 的 Log10MoM 分布以及与其他标记的相关性。通过蒙特卡罗模拟估计人群的筛查表现。结果 ADAM 12 在 DS 妊娠的前三个月显着降低，log 10MoM 为 -0.1621（相当于 0.68 MoM）（p < 0.001）。随着胎龄的增加，减少量逐渐减少。 ADAM 12 与 PAPP-A+hCG beta+NT（CUB 筛查）一起使用，将检出率 (DR) 从 86% 提高到 89%，假阳性率 (FPR) 为 5%。当用于 90% 的固定 DR 时，添加 ADAM12 导致 FPR 降低 25%。 结论 ADAM12 是一种中等有效的 DS 标记。它不是 CUB 筛查的一种经济高效的补充，但可用于降低选定的高风险病例的 FPR。版权所有 (C) 2009 John Wiley & Sons, Ltd.
Background ADAM 12 has been shown to be an efficient maternal serum marker for Down syndrome (DS) in the first trimester; but recent studies, using a second generation assay, have not confirmed these findings. We examined the efficiency of a second generation assay for ADAM 12.Materials and Methods ADAM12 concentrations were determined in 28 first trimester DS and 503 control pregnancies using a novel Research Delfia(R) ADAM12 kit. Log10MoM distributions of ADAM12 and correlations with other markers were established. Population performance of screening was estimated by Monte Carlo simulation.Results ADAM 12 was significantly reduced in the first trimester in DS pregnancies with a log 10MoM of -0.1621 (equivalent to 0.68 MoM) (p < 0.001). The reduction decreased with advancing gestational age. ADAM 12 used with PAPP-A+hCG beta+NT (CUB screening) increased the detection rate (DR) from 86% to 89% for a false positive rate (FPR) of 5%. When used for a fixed DR of 90%, the addition of ADAM12 resulted in a 25% reduction of the FPR.Conclusion ADAM12 is a moderately effective DS marker. It is not a cost-effective addition to CUB screening, but may be used to reduce the FPR in selected high-risk cases. Copyright (C) 2009 John Wiley & Sons, Ltd.