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孕早期诊断并腿畸形。

First trimester diagnosis of sirenomelia.

作者信息

Van Keirsbilck J, Cannie M, Robrechts C, de Ravel T, Dymarkowski S, Van den Bosch T, Van Schoubroeck D

机构信息

Department of Obstetrics and Gynaecology, A.Z. Heilig Hart, Tienen, Belgium.

出版信息

Prenat Diagn. 2006 Aug;26(8):684-8. doi: 10.1002/pd.1479.

Abstract

We present a case of sirenomelia diagnosed on a first trimester ultrasound at 10 weeks' gestation and confirmed on 3D-ultrasound and MRI. The pregnancy was terminated at 15 gestational weeks and the post-mortem examination, including RX and microscopy, is presented. The sirenomelia sequence is a rare and lethal anomaly characterized by fusion, rotation, hypotrophy or atrophy of the lower limbs and severe urogenital abnormalities leading to oligohydramnios in the second half of pregnancy. Our case illustrates that the diagnosis of sirenomelia can be reliably made in the first trimester.

摘要

我们报告一例孕10周时通过孕早期超声诊断出并经三维超声和磁共振成像(MRI)确诊的并腿畸形病例。妊娠于孕15周时终止,并进行了包括X线和显微镜检查在内的尸检。并腿畸形序列征是一种罕见的致死性畸形,其特征为下肢融合、旋转、发育不全或萎缩以及严重的泌尿生殖系统异常,导致妊娠后半期羊水过少。我们的病例表明,孕早期即可可靠地诊断并腿畸形。

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