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在两个地区(布莱顿和伊斯特本)实施唐氏综合征产前血清筛查项目。布莱顿和伊斯特本唐氏综合征筛查小组。

Implementation of an antenatal serum screening programme for Down's syndrome in two districts (Brighton and Eastbourne). The Brighton and Eastbourne Down's Syndrome Screening Group.

作者信息

Piggott M, Wilkinson P, Bennett J

机构信息

Brighton Healthcare NHS Trust, United Kingdom.

出版信息

J Med Screen. 1994 Jan;1(1):45-9. doi: 10.1177/096914139400100109.

DOI:10.1177/096914139400100109
PMID:8790485
Abstract

OBJECTIVES

To evaluate the introduction to two health districts of an antenatal serum screening programme for Down's syndrome using the triple test-measurement of alpha fetoprotein, unconjugated oestriol, and human chorionic gonadotrophin concentrations in second trimester serum samples.

METHODS

All women delivering at the main maternity units in both districts were eligible for the screening programme. A serum sample was taken between 15 and 22 weeks' gestation, confirmed by ultrasound scan. An estimated risk of 1 in 250 or greater was considered to be a screen positive result and further diagnostic tests were offered. As far as possible the outcome of all screened pregnancies was recorded, and babies with Down's syndrome born to women who declined serum screening were also identified.

RESULTS

6990 singleton pregnancies were screened over a two year period, representing an estimated uptake of 67% (6990/ 10,443). After a screen positive result 80% of women (168/211; 95% confidence interval 74.2 to 85.1%) opted for amniocentesis. The false positive rate was 2.9% (203/6979; 95% confidence interval 2.5 to 3.3%). The detection rate in the screened population was 73% (8/11). The estimated cost of identifying one Down's syndrome affected pregnancy was about 31,000 pounds.

CONCLUSIONS

Successful introduction of the triple test to health districts where there is no established serum screening programme for neural tube defects is possible. The programme seems to be acceptable to most of those screened. Uptake of the programme is sufficient to make it more effective than a policy for Down's syndrome screening dependent on age only.

摘要

目的

通过检测孕中期血清样本中甲胎蛋白、游离雌三醇和人绒毛膜促性腺激素浓度的三联检测法,评估在两个健康区引入唐氏综合征产前血清筛查项目的情况。

方法

在两个区主要产科单位分娩的所有妇女均符合筛查项目条件。在妊娠15至22周期间采集血清样本,并经超声扫描确认。估计风险为1/250或更高被视为筛查阳性结果,并提供进一步的诊断检测。尽可能记录所有接受筛查妊娠的结局,同时识别拒绝血清筛查的妇女所生的唐氏综合征患儿。

结果

在两年期间对6990例单胎妊娠进行了筛查,估计参与率为67%(6990/10443)。筛查结果为阳性后,80%的妇女(168/211;95%置信区间74.2%至85.1%)选择了羊膜穿刺术。假阳性率为2.9%(203/6979;95%置信区间2.5%至3.3%)。筛查人群中的检出率为73%(8/11)。识别一例唐氏综合征患儿的估计成本约为31000英镑。

结论

在尚无成熟神经管缺陷血清筛查项目的健康区成功引入三联检测法是可行的。该项目似乎为大多数接受筛查的人所接受。该项目的参与率足以使其比仅依赖年龄的唐氏综合征筛查政策更有效。

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Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.定期健康检查,1996年更新版:1. 唐氏综合征的产前筛查与诊断。加拿大定期健康检查特别工作组。
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