Service de Radiologie, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
EA fetus, Necker Hospital, Paris, France.
Prenat Diagn. 2019 Aug;39(9):781-791. doi: 10.1002/pd.5429. Epub 2019 Apr 3.
"CHARGE syndrome" (CS) is a multifaceted syndrome associated with a poor prognosis. The prenatal diagnosis remains challenging especially as the fetal anomalies that may evoke suspicion of CS are not comprehensively described.
This study aims to identify the anomalies in MRI with suspected CHARGE syndrome and to propose a possible standardization in the image-based prenatal diagnosis of CS.
This was a retrospective study of 26 fetuses who underwent MRI and had a confirmed diagnosis of CS, as proven by histopathological and/or neonatal examinations and/or the presence of the CHD7 gene mutation.
The three most frequent MRI anomalies confirmed at histopathological and/or neonatal examinations were arhinencephaly in 100% (26 of 26), dysplasia of the semicircular canals agenesis (SCA) in 100% (24 of 24), and posterior fossa anomalies in 100% (22 of 22). Our study also revealed short petrous bones with a particular triangular shape in 24 of 24 cases of SCA. Other relevant findings included external ear anomalies in 36% (9 of 25), cleft lip and palate (9 of 9), ventriculomegaly (VMG) (6 of 6), short corpus callosum (3 of 3), and ocular asymmetry in 36.6% (4 of 11).
Our study emphasizes the interest of fetal MRI in the diagnosis of CS with an adapted knowledge of semiology.
“CHARGE 综合征”（CS）是一种多方面的综合征，预后不良。产前诊断仍然具有挑战性，特别是因为可能引起 CS 怀疑的胎儿异常并没有全面描述。
本研究旨在确定 MRI 中疑似 CHARGE 综合征的异常，并提出 CS 产前诊断的可能标准化。
这是一项对 26 名接受 MRI 检查且 CS 确诊的胎儿的回顾性研究，CS 的确诊依据是组织病理学和/或新生儿检查和/或 CHD7 基因突变的存在。
组织病理学和/或新生儿检查证实的三种最常见的 MRI 异常是无鼻畸形（100%，26/26）、半规管发育不良/未发育（100%，24/24）和后颅窝异常（100%，22/22）。我们的研究还发现，24 例 SCA 中有 24 例表现为短岩骨，呈特殊的三角形。其他相关发现包括外耳畸形（36%，9/25）、唇腭裂（9/9）、脑室扩大（VMG）（6/6）、胼胝体发育不良（3/3）和眼不对称（36.6%，4/11）。
我们的研究强调了胎儿 MRI 在 CS 诊断中的作用，需要对其影像学表现有专门的了解。
