Prenatal diagnosis · 2019
Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals.
СтатьяНазвание и аннотация: Перевод в очереди
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Millischer Anne-Elodie, Sonigo Pascale, Attie Tania, Spaggiari Emmanuel, O'Gorman Neil, Bessieres Bettina, Kermorvant Elsa, Boddaert Nathalie, Salomon Laurent-Julien, Grevent David
Аннотация
UNLABELLED: "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.
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.