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右位主动脉弓:在中期胎儿中与唐氏综合征其他标志物的发生率及相关性。

Aberrant right subclavian artery: incidence and correlation with other markers of Down syndrome in second-trimester fetuses.

机构信息

Fetal Medicine and Cardiology Unit, Department of Obstetrics and Gynecology, University Federico II of Naples, Naples, Italy.

出版信息

Ultrasound Obstet Gynecol. 2012 Feb;39(2):191-5. doi: 10.1002/uog.10053.

Abstract

OBJECTIVE

To assess the incidence of aberrant right subclavian artery (ARSA) and other strong markers of Down syndrome and their correlation in a large population of second-trimester Down syndrome fetuses assessed in a tertiary referral center.

METHODS

Presence or absence of ARSA and other major ultrasound markers of Down syndrome was assessed in a population of 106 second-trimester Down syndrome fetuses referred to our unit for expert assessment and/or termination of pregnancy after karyotyping performed for positive first- or second-trimester screening or advanced maternal age or on maternal request. All cases in which the diagnosis of Down syndrome followed the ultrasound detection of major anomalies or soft markers were excluded from the study, as were all cases with a gestational age less than 14 + 0 weeks. We searched for the ARSA on the three vessels and trachea view using color or power Doppler. All fetuses underwent a thorough anatomic assessment and fetal echocardiography. The other Down syndrome markers assessed were: absent or hypoplastic nasal bone (NB-), defined as length < 5(th) centile; nuchal fold ≥ 5 mm; and mild pyelectasis (> 5 mm). In addition, the presence of major cardiac and extracardiac defects was recorded. A correlation analysis was then performed in order to investigate possible associations between markers and/or major anomalies. Postmortem or postnatal diagnostic confirmation was available in all cases.

RESULTS

The mean (SD) gestational age at ultrasound assessment was 20.4 (4.1) weeks. The incidence of the various variables in the population of Down syndrome fetuses was: ARSA, 25%; NB-, 43%; nuchal fold ≥ 5 mm, 16%; pyelectasis, 17%; major heart defects, 41%; atrioventricular septal defect, 25%; and extracardiac anomaly, 24%. The presence of ARSA did not correlate with any of the other variables. The only positive correlations (P < 0.05) were between NB- and pyelectasis, and between cardiac and extracardiac defects.

CONCLUSIONS

This represents the largest Down syndrome population assessed for ARSA. In this series, the incidence of ARSA was 25%, lower than previously reported in much smaller series. Its presence did not correlate with the presence of any other marker or major anomaly, including heart defects.

摘要

目的

评估大型三级转诊中心中 106 例中期唐氏综合征胎儿的右位主动脉弓(ARSA)及其他唐氏综合征强标志物的发生率及其相关性。

方法

在本单位对经核型分析诊断为唐氏综合征的 106 例中期唐氏综合征胎儿(唐氏综合征筛查阳性或高龄产妇、或孕妇要求行核型分析)进行超声检查,评估 ARSA 及其他唐氏综合征的主要超声标志物。本研究排除了因超声检测到重大异常或软指标而诊断为唐氏综合征的病例,也排除了所有孕龄小于 14+0 周的病例。我们在三血管和气管切面使用彩色或能量多普勒搜索 ARSA。所有胎儿均行全面的解剖评估和胎儿超声心动图检查。评估的其他唐氏综合征标志物包括:鼻骨缺失或发育不良(NB-),定义为长度<第 5 百分位数;颈项透明层(NT)≥5mm;轻度肾盂扩张(>5mm)。此外,还记录了主要心脏和心脏外畸形的存在。然后进行相关性分析,以探讨标志物和/或主要畸形之间的可能关联。所有病例均有死后或产后诊断证实。

结果

超声评估时的平均(标准差)孕龄为 20.4(4.1)周。唐氏综合征胎儿群体中各种变量的发生率为:ARSA,25%;NB-,43%;NT≥5mm,16%;肾盂扩张,17%;主要心脏缺陷,41%;房室间隔缺损,25%;心脏外畸形,24%。ARSA 的存在与其他任何变量均无相关性。唯一呈正相关(P<0.05)的是 NB-与肾盂扩张,以及心脏与心脏外畸形之间。

结论

这是评估 ARSA 的最大唐氏综合征人群。在本系列中,ARSA 的发生率为 25%,低于以前在小得多的系列中报道的发生率。其存在与任何其他标志物或主要异常(包括心脏缺陷)均无相关性。

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