先天性高气道阻塞综合征(CHAOS):从单中心病例系列开始讨论产前诊断的作用和局限性。

Maria Diletta D'Eufemia, Stefano Cianci, Filippo Di Meglio, Letizia Di Meglio, Lavinia Di Meglio, Salvatore Giovanni Vitale, Antonio Simone Laganà, Benito Chiofato, Agnese Maria Chiara Rapisarda, Francesco Padula, Valentina La Rosa, Claudio Coco, Carmine Vascone
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引用次数: 11

摘要

目的:报告我们治疗先天性高气道阻塞综合征(CHAOS)的经验,这是一种罕见且致命的先天性异常;喉闭锁是最常见的病因。超声表现为肺回声放大,气管扩张,腹水。方法:对产前超声检查收集的单中心病例进行系列分析,部分病例经尸检证实。结果:我们报告了2007年至2013年6例产前超声诊断的混沌。结论:迄今文献提供的个案报告非常少。这项工作描述了该综合征的典型超声检查结果,并强调了早期产前诊断对改善预后的重要性,而不是宫内治疗,这似乎是受影响胎儿生存的唯一机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Congenital high airway obstruction syndrome (CHAOS): discussing the role and limits of prenatal diagnosis starting from a single-center case series.

Congenital high airway obstruction syndrome (CHAOS): discussing the role and limits of prenatal diagnosis starting from a single-center case series.

Objectives: we aimed to report our experience about congenital high airway obstruction syndrome (CHAOS) that is a rare and fatal congenital anomaly; laryngeal atresia is the most frequent cause. Sonographic findings are enlarged echogenic lungs, dilated trachea, and ascites.

Methods: we performed a single-center case series analysis collecting antenatally through ultrasound examination, and some of them confirmed by autopsy.

Results: we report six cases of CHAOS diagnosed by antenatal ultrasonography between 2007 and 2013.

Conclusion: to date literature provides very few individual case reports. This work describes typical sonographic findings of this syndrome and it underlines the importance of early prenatal diagnosis to improve prognosis thought an ex utero intrapartum treatment, that seems to be the only chance of survival for the affected fetus.

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