We have examined maternal urine concentrations of beta core, free beta human chorionic gonadotrophin (hCG), and total oestriol in 373 control pregnancies and 43 pregnancies affected by aneuploidy (including 22 cases of Down's syndrome) in an attempt to see if any of the analytes have a value in Down's syndrome screening between the tenth and 14th week of pregnancy. We have compared the performance of these analytes against nuchal translucency measurement combined with maternal serum free beta hCG at the same period of pregnancy. Our results show that levels of urine free beta hCG and beta core are increased in Down's syndrome with average multiple of the median levels of 1.81 and 2.91, respectively. Urine total oestriol was reduced (0.83) whilst maternal serum free beta hCG was increased (1.72). In trisomy 18 the levels of all analytes were reduced, although serum free beta hCG was the most discriminating. The spread of results in the control and the Down's group for urine beta core was more than three times than that for serum free beta hCG and with urine free beta hCG it was two times wider. In combination with maternal age, urine total oestriol had a 32 per cent detection rate at a fixed 5 per cent false-positive rate; urine beta core 34 per cent, urine free beta hCG 36 per cent, maternal serum free beta hCG 44 per cent, and nuchal translucency 82 per cent. In combination with nuchal translucency, urine total oestriol added an extra 1 per cent detection, urine beta core an extra 2 per cent, urine free beta hCG an extra 3 per cent, and serum free beta hCG an extra 5 per cent. It is unlikely that any of the urine markers will be of value in first-trimester screening. Optimal first-trimester screening programmes will rely for the foreseeable future on nuchal translucency, serum free beta hCG, and possibly pregnancy-associated plasma protein A.

译文

:我们检查了373例非整倍性(包括22例唐氏综合症患者)的孕妇和43例孕妇的β核心,游离β人绒毛膜促性腺激素(hCG)和总雌三醇的孕妇尿液浓度,以查看是否存在任何在妊娠的第十至十四周期间,分析物在唐氏综合症筛查中具有价值。我们已将这些分析物的性能与在怀孕同一时期与孕妇血清游离βhCG相结合的颈部半透明测量结果进行了比较。我们的结果表明,唐氏综合症中无尿的βhCG和β核心水平升高,分别为中位数水平的平均倍数1.81和2.91。尿中总雌三醇减少(0.83),而孕妇血清游离β-hCG增加(1.72)。在三体性18中,所有血清分析物的含量都降低了,尽管无血清的βhCG最为明显。对照组和唐氏组中尿β-核心的结果分布是无血清β-hCG的三倍以上,而无尿β-hCG的结果则宽了两倍。结合产妇年龄,尿中总雌三醇的检出率为32%,假阳性率为5%。尿β-核心34%,尿β-hCG36%,孕妇血清β-hCG44%,口腔半透明82%。结合颈部半透明性,尿液中总雌三醇的含量增加了1%,尿液β-核心的含量增加了2%,无尿β-hCG的增加了3%,​​无血清β-hCG的增加了5%。任何尿液标记物在孕早期筛查中都没有价值的可能性很小。最佳的早孕筛查程序将在可预见的将来依赖于颈部半透明性,无血清βhCG以及可能与妊娠相关的血浆蛋白A。

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