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首页> 外文期刊>Life sciences >Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis.
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Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis.

机译：羊水中S100B水平对唐氏综合症诊断的特异性和敏感性。

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Down syndrome (DS) is the most common chromosomal abnormality and is associated with an extra copy of the chromosome 21. Although several markers are commonly used during pregnancy for the screening of DS, the definitive diagnosis is based on karyotype after amniocentesis, which is an expensive and laborious analysis. S100B is an astrocyte protein which had its gene mapped to the long arm of chromosome 21. Previous preliminary reports have found increased levels of this protein in the amniotic fluid of DS gestations. Aiming to achieve a simpler and cheaper test then karyotype to perform prenatal diagnosis of DS, here we have extended our previous studies and evaluated the real usefulness of amniotic S100B measurement for prenatal DS diagnosis. We have measured S100B in amniotic fluid of 96 pregnancies with DS and of 50 normal pregnancies. Pregnancies with DS presented significantly higher amniotic fluid S100B levels (M = 1.16 ng/mL; IQ = 0.83/1.78) than normal pregnancies (M = 0.51 ng/mL; IQ = 0.38/0.83) (p < 0.0001). A receiver operating characteristic (ROC) curve was performed to evaluate the sensitivity and specificity of S100B for DS diagnosis, and presented an area under the curve (AUC) of 0.82, indicating that S100B could be a reliable marker of DS. Moreover, values above 1.67 ng/mL were present only in DS fetuses, representing about 30% of affected pregnancies. However, as an overlap of values was observed between normal and DS gestations, we concluded that amniotic S100B alone is not a good test to discard DS diagnosis.
机译：唐氏综合症（DS）是最常见的染色体异常，与21号染色体的额外副本有关。尽管妊娠期间通常使用几种标记物进行DS筛查，但明确的诊断是基于羊膜穿刺术后的核型。昂贵且费力的分析。 S100B是一种星形胶质细胞蛋白，其基因定位在21号染色体的长臂上。先前的初步报告发现该蛋白在DS妊娠羊水中的水平升高。为了实现一种比染色体核型检查更简单，更便宜的方法来进行DS的产前诊断，在这里，我们扩展了以前的研究并评估了羊膜S100B测量对产前DS诊断的真正有用性。我们测量了96例DS妊娠和50例正常妊娠的羊水中的S100B。 DS妊娠的羊水S100B水平（M = 1.16 ng / mL; IQ = 0.83 / 1.78）显着高于正常妊娠（M = 0.51 ng / mL; IQ = 0.38 / 0.83）（p <0.0001）。进行了受试者工作特征（ROC）曲线以评估S100B对DS诊断的敏感性和特异性，并且曲线下面积（AUC）为0.82，表明S100B可以作为DS的可靠标记。此外，仅DS胎儿中存在高于1.67 ng / mL的值，约占受影响孕妇的30％。但是，由于在正常妊娠和DS妊娠之间观察到值重叠，因此我们得出结论，单独羊膜S100B并不是放弃DS诊断的好方法。

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