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ADAM 12作为孕中期母体血清标志物用于唐氏综合征筛查。

ADAM 12 as a second-trimester maternal serum marker in screening for Down syndrome.

作者信息

Christiansen Michael, Spencer Kevin, Laigaard Jennie, Cowans Nicholas J, Larsen Severin Olesen, Wewer Ulla M

机构信息

Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark.

出版信息

Prenat Diagn. 2007 Jul;27(7):611-5. doi: 10.1002/pd.1750.

DOI:10.1002/pd.1750
PMID:17465398
Abstract

BACKGROUND

ADAM 12 is a placenta-derived glycoprotein that is involved in growth and differentiation. The maternal serum concentration of ADAM 12 is a potential first-trimester maternal serum marker of Down syndrome (DS). Here we examine the potential of ADAM 12 as a second-trimester maternal serum marker of DS.

MATERIALS AND METHODS

The concentration of ADAM 12 was determined in gestational week 14-19 in 88 DS pregnancies and 341 matched control pregnancies. Medians of normal pregnancies were established by polynomial regression and the distribution of log(10) MoM ADAM 12 values in DS pregnancies and controls determined. Correlations with alpha-fetoprotein (AFP) and free beta-human chorionic gonadotrophin (free beta-hCG) were established and used to model the performance of maternal serum screening with ADAM 12 in combination with other second-trimester serum markers.

RESULTS

The ADAM 12 maternal serum concentration was significantly increased with a median MoM of 1.85 and a mean log(10) MoM (SD) of 0.268 (0.2678) compared to a mean log(10) MoM (SD) of 0.013 (0.4318) in controls. ADAM 12 correlated with maternal weight and ethnicity (with the serum concentration increased in Afro-Caribbeans), but neither with maternal age nor gestational age, and only marginally with AFP (r(DS) = 0.078, r(controls) = 0.093) and free beta-hCG (r(DS) = 0.073, r(controls) = 0.144. The increase in detection rate-for a false positive rate of 5%--by adding ADAM 12 to the double test (AFP + free beta-hCG) was 4%, similar to that of adding uE3 to the double test.

CONCLUSION

ADAM 12 is an efficient second-trimester marker for DS. Further studies should be conducted to determine whether it may be a useful additional or alternative marker to those currently used in the second-trimester.

摘要

背景

ADAM 12是一种胎盘来源的糖蛋白,参与生长和分化过程。ADAM 12的母体血清浓度是孕早期唐氏综合征(DS)潜在的母体血清标志物。在此,我们研究ADAM 12作为孕中期DS母体血清标志物的潜力。

材料与方法

测定了88例DS妊娠和341例匹配对照妊娠在孕14 - 19周时ADAM 12的浓度。通过多项式回归确定正常妊娠的中位数,并确定DS妊娠和对照中ADAM 12的log(10) MoM值分布。建立了与甲胎蛋白(AFP)和游离β - 人绒毛膜促性腺激素(游离β - hCG)的相关性,并用于模拟将ADAM 12与其他孕中期血清标志物联合进行母体血清筛查的性能。

结果

与对照组平均log(10) MoM(标准差)0.013(0.4318)相比,ADAM 12母体血清浓度显著升高,中位数MoM为1.85,平均log(10) MoM(标准差)为0.268(0.2678)。ADAM 12与母体体重和种族相关(非裔加勒比人的血清浓度升高),但与母体年龄和孕周均无关,与AFP(DS组r = 0.078,对照组r = 0.093)和游离β - hCG(DS组r = 0.073,对照组r = 0.144)仅存在微弱相关性。对于5%的假阳性率,将ADAM 12添加到双联检测(AFP + 游离β - hCG)中,检测率提高了4%,与将游离雌三醇(uE3)添加到双联检测中的效果相似。

结论

ADAM 12是一种有效的孕中期DS标志物。应进一步开展研究,以确定它是否可能是目前孕中期使用的标志物的有用补充或替代标志物。

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