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高龄孕妇唐氏综合征筛查的四联检测。

The quadruple test for Down syndrome screening in pregnant women of advanced maternal age.

机构信息

Department of Obstetrics and Gynecology, College of Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, #505 Banpodong, Sechogu, Seoul 137-040, Korea.

出版信息

Arch Gynecol Obstet. 2012 Mar;285(3):629-33. doi: 10.1007/s00404-011-2052-1. Epub 2011 Aug 12.

Abstract

PURPOSE

The purpose of the current study was to determine whether or not the quadruple test for screening Down syndrome is an effective method to replace direct amniocentesis in pregnant women ≥ 35 years of age.

METHODS

This study analyzed the screening performance of the quadruple test according to maternal age at delivery among subjects who had a quadruple screening test at 1 of 4 hospitals during a 5-year period and for whom data on fetal chromosomal abnormalities were available.

RESULTS

The study population of 9,435 pregnant women was divided into 3 groups according to maternal age: 6,922 women were < 35 years of age; 2,284 were 35-39 years of age; and 229 women ≥ 40 years of age. The detection and false-positive rates of the quadruple screening test for Down or Edward syndrome in the 3 groups of women were 80 and 6.6%, 200 and 15.8%, and 100 and 35.3%, respectively.

CONCLUSIONS

Under conditions in which first trimester screening test is not available, the quadruple screening test is a better choice than direct amniocentesis for pregnancies complicated by advanced maternal age. When providing genetic counseling, we need to explain the accurate detection and false-positive rates of the screening test according to maternal age.

摘要

目的

本研究旨在确定唐氏综合征的四联筛查是否能有效替代高龄孕妇的直接羊膜穿刺术。

方法

本研究根据 4 家医院在 5 年内进行的四联筛查测试时孕妇的分娩年龄,对该测试的筛查性能进行了分析,且这些孕妇均有胎儿染色体异常的数据。

结果

9435 名孕妇的研究人群根据母亲年龄分为 3 组:<35 岁的 6922 名妇女;35-39 岁的 2284 名妇女;≥40 岁的 229 名妇女。3 组妇女的唐氏或爱德华综合征四联筛查检测和假阳性率分别为 80%和 6.6%、200%和 15.8%、100%和 35.3%。

结论

在不能进行早孕期筛查的情况下,对于高龄孕妇,四联筛查测试是比直接羊膜穿刺术更好的选择。在提供遗传咨询时,我们需要根据母亲的年龄来解释筛查测试的准确检测率和假阳性率。

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