Brémond-Gignac D, Copin H, Elmaleh M, Milazzo S
Service d'ophtalmologie, centre Saint-Victor, CHU d'Amiens, université Picardie Jules-Verne, 354, boulevard de Beauvillé, 80054 Amiens, France.
J Fr Ophtalmol. 2010 May;33(5):350-4. doi: 10.1016/j.jfo.2010.03.004. Epub 2010 May 6.
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.
先天性眼部畸形并不常见,需要进行产前诊断。严重畸形更常由训练有素的团队检测到,而轻微畸形则更难识别,必须系统地寻找,尤其是在已知存在多种畸形或有家族及母亲病史的情况下。最常用的产前诊断成像工具是超声,但可通过磁共振成像(MRI)加以完善,后者能提供关键信息。胎儿畸形可发生于各种功能障碍类型中,产前诊断必须识别胎儿眼部异常。在进行系统的形态学超声成像后,对MRI检测到的不同异常进行研究。诸如双眼和眶间测量等经典参数用于检测眼距过窄和眼距过宽。已经描述了产前眼部异常,如白内障、小眼症、无眼症和缺损。产前超声检查辅以胎儿MRI对于检测脑部和全身异常至关重要,并且可以提供有关眼球大小和形态的更多信息。胎儿异常检测包括详细的家族和母亲病史、用于核型分析的羊水样本以及其他有助于更好理解图像的分析。每次怀孕都必须与所有专科医生进行讨论以提供遗传咨询。对于严重畸形,由于存在失明风险以及相关的脑部或全身异常,建议终止妊娠。眼部畸形的早期产前诊断还可以检测到相关异常,尽早考虑需要手术治疗的先天性白内障。最后,各种相关综合征需要进行儿科检查,这可能会导致紧急治疗。