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唐氏综合征筛查中的母血清标志物

Maternal serum markers in screening for Down syndrome.

作者信息

Nørgaard-Pedersen B, Larsen S O, Arends J, Svenstrup B, Tabor A

机构信息

Hormone Department, Statens Seruminstitut, Copenhagen, Denmark.

出版信息

Clin Genet. 1990 Jan;37(1):35-43. doi: 10.1111/j.1399-0004.1990.tb03388.x.

Abstract

The addition of two new markers in maternal serum, estriol and HCG, to those already known, namely the level of maternal serum alfa-fetoprotein and maternal age, considerably improves the expected results of a screening strategy for Down syndrome. The detection rate is slightly increased from 53.0% to 57.6%, but, more importantly, the false-positive rate decreases from 9.4% to 7.3%. It is our belief that, at least in women aged less than 35 years, a screening strategy based on a combination of maternal age and biochemical markers should be incorporated into antenatal care. For older women, the results of such a maternal serum test may refine counseling for genetic amniocentesis, as a much more explicit risk calculation can be performed than that based on age alone.

摘要

在孕妇血清中添加两种新的标志物——雌三醇和人绒毛膜促性腺激素(HCG),再加上已有的标志物,即孕妇血清甲胎蛋白水平和孕妇年龄,能显著改善唐氏综合征筛查策略的预期结果。检测率从53.0%略有提高至57.6%,但更重要的是,假阳性率从9.4%降至7.3%。我们认为,至少对于年龄小于35岁的女性,基于孕妇年龄和生化标志物组合的筛查策略应纳入产前护理。对于年龄较大的女性,这种孕妇血清检测的结果可完善遗传羊膜穿刺术的咨询,因为与仅基于年龄的风险计算相比,能进行更明确的风险计算。

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