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唐氏综合征胎儿的右位主动脉弓。

Aberrant right subclavian artery in Down syndrome fetuses.

机构信息

Suleymaniye Maternity Hospital for Research and Training, Department of Obstetrics and Gynecology, Istanbul, Turkey.

出版信息

Prenat Diagn. 2013 Mar;33(3):209-13. doi: 10.1002/pd.4042. Epub 2013 Jan 14.

Abstract

OBJECTIVES

The aim of this study is to determine the frequency of aberrant right subclavian artery (ARSA) in trisomic and normal fetuses during the routine detailed ultrasonography in the second trimester and to evaluate the potential value of ARSA as an ultrasonographic marker for trisomy 21.

METHODS

The presence of normal brachicephalic trunk/or ARSA was confirmed in all pregnant women undergoing second trimester detailed fetal anomaly screening beyond 16th week of pregnancy. Amniocentesis following genetic councelling was recommended to all women having either any positive ultrasonographic marker including ARSA or a positive biochemical screening test (triple test) result.

RESULTS

During the 17-month period, 2081 patients were screened, and 23 patients with ARSA (1,1%) and 20 patients with trisomy 21 were detected. Of those 20 patients with trisomy 21, ARSA was detected in seven (%35). On the other hand, 30.4% of the fetuses with ARSA had also trisomy 21. The positive and negative likelihood ratios of ARSA for trisomy 21 were 45.08 and 0.65, respectively.

CONCLUSIONS

In our study, the ARSA in combination with other ultrasound signs increased the risk for trisomy 21 by factor of 45, but the independent ability of ARSA as an isolated marker to predict fetal Trisomy 21 is unclear.

摘要

目的

本研究旨在确定在妊娠中期常规详细超声检查中三体和正常胎儿中异常右锁骨下动脉(ARSA)的频率,并评估 ARSA 作为 21 三体超声标志物的潜在价值。

方法

在妊娠 16 周后进行的所有接受胎儿畸形筛查的孕妇中,均证实存在正常的头臂干/或 ARSA。建议所有具有阳性超声标志物(包括 ARSA)或阳性生化筛查试验(三联试验)结果的妇女进行羊膜穿刺术和遗传咨询。

结果

在 17 个月的时间里,共筛查了 2081 例患者,发现 23 例 ARSA(1.1%)和 20 例 21 三体。在这 20 例 21 三体中,有 7 例(35%)发现了 ARSA。另一方面,30.4%的 ARSA 胎儿也患有 21 三体。ARSA 对 21 三体的阳性和阴性似然比分别为 45.08 和 0.65。

结论

在我们的研究中,ARSA 与其他超声征象相结合,使 21 三体的风险增加了 45 倍,但 ARSA 作为孤立标志物预测胎儿 21 三体的独立能力尚不清楚。

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