Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, Denmark.
Prenat Diagn. 2010 Feb;30(2):110-4. doi: 10.1002/pd.2405.
ADAM12 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 ADAM12.
ADAM12 concentrations were determined in 28 first trimester DS and 503 control pregnancies using a novel Research Delfia ADAM12 kit. Log10MoM distributions of ADAM12 and correlations with other markers were established. Population performance of screening was estimated by Monte Carlo simulation.
ADAM12 was significantly reduced in the first trimester in DS pregnancies with a log10MoM of -0.1621 (equivalent to 0.68 MoM) (p < 0.001). The reduction decreased with advancing gestational age. ADAM12 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.
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.
ADAM12 已被证明是一种有效的唐氏综合征（DS）的母血清标志物，用于早孕期；但最近的研究，使用第二代检测方法，并未证实这些发现。我们研究了第二代 ADAM12 检测方法的效率。
使用新型 Research Delfia ADAM12 试剂盒，在 28 例早孕期 DS 及 503 例对照妊娠中，测定 ADAM12 浓度。建立 ADAM12 的 log10MoM 分布及与其他标志物的相关性。通过蒙特卡罗模拟估计筛查的人群效能。
DS 妊娠中 ADAM12 在早孕期明显减少，log10MoM 为-0.1621（相当于 0.68 MoM）（p<0.001）。这种减少随着孕周的增加而降低。ADAM12 与 PAPP-A+hCGβ+NT（CUB 筛查）联合使用，将检出率（DR）从 86%提高到 89%，假阳性率（FPR）为 5%。当用于固定的 DR 为 90%时，添加 ADAM12 可使 FPR 降低 25%。
ADAM12 是一种中等有效的 DS 标志物。它不是 CUB 筛查的有效附加手段，但可用于降低某些高危病例的 FPR。
