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并腿畸形并多指(趾):妊娠早期第一 trimester 的超声及宫腔内直视胚胎镜诊断。

Sirenomelia with oligodactylia: early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation.

机构信息

Azienda Ospedaliera-Universitaria Policlinico-Vittorio Emanuele, Dipartimento di Ginecologa e Ostetricia, University of Catania, Catania, Italy.

出版信息

Fetal Diagn Ther. 2010;28(1):43-5. doi: 10.1159/000309552. Epub 2010 May 26.

Abstract

The case we describe reports the early sonographic findings of sirenomelia with oligodactylia at 9 weeks of gestation by transvaginal two-dimensional color Doppler ultrasonography imaging and its confirmation by hysteroscopic embryoscopy at 12 weeks to further characterize the findings. The embryo showed increased nuchal translucency and fused lower limbs with a large intra-abdominal vessel and two-vessel umbilical cords. The pregnancy was terminated by medical abortion induction after the patient viewed the embryoscopic images. Diagnosis is commonly made later in the second trimester of pregnancy, oligohydramnios being a warning signal, which usually makes the diagnosis difficult. Survival, only possible in the absence of renal agenesis, is extremely rare. In view of the extremely poor prognosis, early diagnosis allows for earlier counseling and less traumatic therapeutic termination of pregnancy.

摘要

我们描述的病例报告了一例孕 9 周经阴道二维彩色多普勒超声检查发现的并腿畸形合并少指(趾)畸形的早期声像图表现,并在 12 周经阴道宫腔内镜检查进一步明确了这些发现。胚胎显示颈后透明层增厚,下肢融合,伴有大的腹腔内血管和双脐血管。患者观看了宫腔内镜图像后,选择药物流产终止妊娠。通常在妊娠中期较晚时才能做出诊断,羊水过少是一个警告信号,这通常使诊断变得困难。如果没有肾发育不全,存活的可能性极小。鉴于预后极差,早期诊断可以更早地进行咨询,并减少创伤性的终止妊娠治疗。

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