Anne-Elodie Millischer1,2, Pascale Sonigo1, Tania Attie3, Emmanuel Spaggiari4, Neil O'Gorman4, Bettina Bessieres5, Elsa Kermorvant6, Nathalie Boddaert1, Laurent-Julien Salomon2,4, David Grevent1. 1. Service de Radiologie, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France. 2. EA fetus, Necker Hospital, Paris, France. 3. Service de Génétique, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France. 4. Service de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes, Paris, France. 5. Service d'anatomopathologie, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes, Paris, France. 6. Service de néonatologie, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes, Paris, France.
Abstract
"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. OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: Our study emphasizes the interest of fetal MRI in the diagnosis of CS with an adapted knowledge of semiology.
"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. OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: Our study emphasizes the interest of fetal MRI in the diagnosis of CS with an adapted knowledge of semiology.