[Fetal ocular anomalies: the advantages of prenatal magnetic resonance imaging]

Abstract

Congenital ocular malformations are uncommon and require prenatal diagnosis. Severe anomalies are more often detected by trained teams and minor anomalies are more difficult to identify and must be systematically sought, particularly when multiple malformations or a family and maternal history is known. The prenatal diagnosis-imaging tool most commonly used is ultrasound but it can be completed by magnetic resonance imaging (MRI), which contributes crucial information. Fetal dysmorphism can occur in various types of dysfunction and prenatal diagnosis must recognize fetal ocular anomalies. After systematic morphologic ultrasound imaging, different abnormalities detected by MRI are studied. Classical parameters such as binocular and interorbital measurements are used to detect hypotelorism and hypertelorism. Prenatal ocular anomalies such as cataract microphthalmia, anophthalmia, and coloboma have been described. Fetal MRI added to prenatal sonography is essential in detecting cerebral and general anomalies and can give more information on the size and morphology of the eyeball. Fetal abnormality detection includes a detailed family and maternal history, an amniotic fluid sample for karyotype, and other analyses for a better understanding of the images. Each pregnancy must be discussed with all specialists for genetic counseling. With severe malformations, termination of pregnancy is proposed because of risk of blindness and associated cerebral or systemic anomalies. Early prenatal diagnosis of ocular malformations can also detect associated abnormalities, taking congenital cataracts that need surgical treatment into account as early as possible. Finally, various associated syndromes need a pediatric check-up that could lead to emergency treatment.