Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals

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.

Diagnostic Value and Application of Prenatal MRI and Ultrasound in Fetal Cleft Lip and Palate

“…After 8 weeks of development, if the nasal septum and bilateral palatal processes of the secondary palate do not fuse with the primary palate with bilateral anterior palatal processes, cleft palate will occur. Primary cleft palate is clinically referred to as alveolar cleft [ 15 ].…”

L’examen des oreilles en anténatal : quand, comment et pourquoi ?

“…16). Un syndrome CHARGE doit e ´galement e ˆtre e ´voquer devant un aspect asyme ´trique des deux oreilles, associe ´a `une microtie avec impression d'oreille basse implante ´e [56,57]. La conque triangulaire, l'anthe ´lix proe ´minent, et le lobule absent donne l'aspect carre typique de ces enfants porteurs de ce syndrome, souvent associe ´s a des anomalies des CSC [58,59] (Fig.…”

The use of fetal MRI for renal and urogenital tract anomalies

“…Dynamic contrast enhanced (DCE) MRI, arterial spin labeling (ASL), magnetic resonance spectroscopy, and relaxometry are functional MRI techniques with applications for renal function evaluation . Although DCE has been investigated in the kidneys of developing mice, it still is not clinically used.…”

“…Prenatal counseling in case of congenital anomalies of the kidney and urinary tract (CAKUT) during screening fetal US is mainly based (a) on the presence or absence of extra‐renal associated anomalies and (b) on the evaluation of the risk of postnatal renal failure. Fetal MRI provides useful information regarding extra‐renal involvement in cases of syndromic CAKUT.…”