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透视下的SURUSS

SURUSS in perspective.

作者信息

Wald N J, Rodeck C, Hackshaw A K, Rudnicka A

机构信息

Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, UK.

出版信息

Semin Perinatol. 2005 Aug;29(4):225-35. doi: 10.1053/j.semperi.2005.05.006.

Abstract

BACKGROUND

Until the publication of the Serum Urine and Ultrasound Screening Study (SURUSS) report, it was difficult to compare the different antenatal screening tests for Down's Syndrome because of variations in study designs. We here present the main results from SURUSS, updated to take account of recent information on nuchal translucency in Down's Syndrome pregnancies, and discuss their implications.

METHODS

SURUSS was a prospective study of 47,053 singleton pregnancies (including 101 pregnancies with Down's Syndrome) conducted in 25 maternity units. Nuchal translucency measurements were taken. Serum and urine samples collected between 9 and 13 weeks, and again between 14 and 20 weeks of pregnancy were stored. Samples from each affected pregnancy and five matched controls were tested for currently used or suggested biochemical Down's Syndrome screening markers. Pregnancies were followed up to determine the presence or absence of Down's Syndrome. For an 85% Down's Syndrome detection rate, the false-positive rate for the Integrated test (nuchal translucency and pregnancy associated plasma protein-A [PAPP-A] at 11 completed weeks of pregnancy, and alpha-fetoprotein, unconjugated oestriol [uE3], free beta or total human chorionic gonadotrophin (hCG) and inhibin-A in the early second trimester) was 0.9%, the Serum integrated test (without nuchal translucency) 2.7%, the Combined test (nuchal translucency with free beta-hCG and PAPP-A at 11 weeks) 4.3%, the Quadruple test (alpha-fetoprotein, uE3, free beta or total hCG and inhibin-A) 6.2%, and nuchal translucency at 11 weeks, 15.2%. All tests included maternal age. Using the Integrated test at an 85% detection rate, there would be six diagnostic procedure-related unaffected fetal losses following amniocentesis per 100,000 women screened compared with 35 using the Combined test or 45 with the Quadruple test.

CONCLUSIONS

The Integrated test offers the most effective and safe method of screening for women who attend in the first trimester. The next best test is the Serum integrated test. The Quadruple test is the best test for women who first attend in the second trimester. There is no justification for retaining the Double (alpha-fetoprotein and hCG) or Triple (alpha-fetoprotein, uE3, and hCG) tests, or nuchal translucency alone (with or without maternal age) in antenatal screening for Down's Syndrome.

摘要

背景

在《血清、尿液及超声筛查研究》(SURUSS)报告发表之前,由于研究设计存在差异,很难对不同的唐氏综合征产前筛查试验进行比较。我们在此呈现SURUSS的主要结果,并根据唐氏综合征妊娠中颈项透明层的最新信息进行了更新,同时讨论其意义。

方法

SURUSS是一项在25个产科单位对47053例单胎妊娠(包括101例唐氏综合征妊娠)进行的前瞻性研究。测量了颈项透明层。收集了妊娠9至13周以及14至20周期间的血清和尿液样本并储存。对每例受影响妊娠的样本以及五个匹配对照的样本进行目前使用的或建议的唐氏综合征生化筛查标志物检测。对妊娠进行随访以确定是否存在唐氏综合征。对于85%的唐氏综合征检测率,综合试验(妊娠11周时的颈项透明层和妊娠相关血浆蛋白A [PAPP - A],以及孕中期早期的甲胎蛋白、未结合雌三醇 [uE3]、游离β或总人绒毛膜促性腺激素(hCG)和抑制素A)的假阳性率为0.9%,血清综合试验(不包括颈项透明层)为2.7%,联合试验(妊娠11周时的颈项透明层与游离β - hCG和PAPP - A)为4.3%,四联试验(甲胎蛋白、uE3、游离β或总hCG和抑制素A)为6.2%,11周时的颈项透明层为15.2%。所有试验均纳入孕妇年龄因素。以85%的检测率使用综合试验时,每100000名接受筛查的妇女中,羊膜穿刺术后与诊断程序相关的未受影响胎儿丢失数为6例,而使用联合试验时为35例,使用四联试验时为45例。

结论

对于在孕早期就诊的妇女,综合试验是最有效且安全的筛查方法。次优的试验是血清综合试验。对于在孕中期首次就诊的妇女,四联试验是最佳试验。在唐氏综合征产前筛查中,没有理由保留双联试验(甲胎蛋白和hCG)或三联试验(甲胎蛋白、uE3和hCG),或单独的颈项透明层检查(无论是否纳入孕妇年龄)。

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