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孕早期无肢畸形的诊断。

Diagnosis of sirenomelia in the first trimester.

作者信息

Singh Chanchal, Lodha Pooja, Arora Deepshikha, Prabhu Sharma Akshatha, Kaul Anita

机构信息

Apollo Centre for Fetal Medicine, Indraprastha Apollo Hospital, New Delhi, India, 110076.

出版信息

J Clin Ultrasound. 2014 Jul-Aug;42(6):355-9. doi: 10.1002/jcu.22116. Epub 2013 Nov 27.

Abstract

Sirenomelia or "mermaid syndrome" is a rare congenital abnormality with an incidence of 1 in 60,000. We report a case diagnosed in the first trimester using two-dimensional, three-dimensional, and color Doppler ultrasound. With increasing emphasis on early diagnosis of fetal abnormalities, this case highlights the importance of looking for anomalies in the first trimester itself. In fact, the diagnosis of sirenomelia should be easier in the first trimester as severe oligohydramnios in later gestation hampers vision.

摘要

肢体-体壁综合征或“美人鱼综合征”是一种罕见的先天性异常,发病率为六万分之一。我们报告一例在孕早期通过二维、三维和彩色多普勒超声诊断出的病例。随着对胎儿异常早期诊断的日益重视,该病例凸显了在孕早期本身就寻找异常情况的重要性。事实上,肢体-体壁综合征在孕早期的诊断应该更容易,因为妊娠后期的严重羊水过少会妨碍观察。

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