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

我们检查了母体尿液中 β 核心,游离 β 人绒毛膜促性腺激素 (hCG) 的浓度,以及373例对照妊娠和43例受非整倍性影响的妊娠 (包括22例唐氏综合征) 中的总雌三醇,试图在妊娠的第十周至第14周之间查看任何分析物在唐氏综合征筛查中是否具有价值。我们已经比较了这些分析物在妊娠同一时期与胎儿透明层测量结合母体血清游离 β hCG的性能。我们的结果表明,在唐氏综合症中,尿液游离的 β hCG和 β 核心水平分别增加了平均1.81和2.91水平的倍数。尿总雌三醇减少 (0.83),而母体血清游离 β-hCG增加 (1.72)。在18三体中,所有分析物的水平都降低了,尽管无血清 β-hCG是最有区别的。在对照组和唐氏组中,尿液 β 核心的结果传播是血清游离 β hCG的三倍以上,而尿液游离 β hCG的传播是其两倍。结合产妇年龄,尿总雌三醇检出率为32%,假阳性率固定为5%; 尿 β 核心34%,尿游离 β hCG 36%,母血清游离 β hCG 44%,颈项半透明82%。结合颈项半透明性,尿液总雌三醇额外增加了1% 的检测,尿液 β 核额外增加了2%,尿液游离 β hCG额外增加了3%,血清游离 β hCG额外增加了5%。在孕早期筛查中,任何尿液标志物都不太可能具有价值。在可预见的将来,最佳的孕早期筛查计划将依赖于颈项透明层,血清游离 β hCG以及可能与妊娠相关的血浆蛋白A。

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