Department of Obstetrics, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
Taiwan J Obstet Gynecol. 2012 Dec;51(4):616-9. doi: 10.1016/j.tjog.2012.09.018.
Primary anophthalmia is a rare congenital malformation that affects 0.6/10,000 liveborn infants. It is usually associated with central nervous system malformations, aneuploidies, cytomegalovirus infection and mental retardation and it can also be part of genetic conditions such as Fraser, Goltz, Goldenhar, Waardenburg and Lenz syndromes. Neonatal prognosis depends on whether anophthalmia is an isolated malformation, or it is associated with other defects or part of a syndrome.
A healthy 43-year-old woman, G4 P3 with three previous healthy children, was referred to our clinic for a routine obstetric ultrasound at 28 weeks' gestation. The fetal eye globes and lenses could not be seen on two-dimensional (2D) ultrasound, which led to the diagnosis of bilateral congenital anophthalmia. No other fetal malformations were detected. At 30 weeks' gestation, a three-dimensional (3D) ultrasound was performed using the rendering mode and "reverse face" view. Using this technique, the absence of both eye globes could be clearly seen through a "slit". 3D-ultrasound allowed the parents to better understand their child's problem and possible postnatal implications. Fetal magnetic resonance imaging (MRI) was also performed, to study the fetal cortex in more detail. This exam revealed right cerebral hemisphere sulci and gyri hypoplasia. At 41 1/7 weeks, she went into spontaneous labor and delivered vaginally a 3525 g male infant with Apgar scores of 9 and 10. Postnatal exams confirmed bilateral congenital anophthalmia.
This is the first case report in the literature of prenatal diagnosis of bilateral anophthalmia using 3D "reverse face" view ultrasound and MRI.
原发性先天性无眼症是一种罕见的先天性畸形，影响 0.6/10000 名活产婴儿。它通常与中枢神经系统畸形、非整倍体、巨细胞病毒感染和智力迟钝有关，也可能是 Fraser、Goltz、Goldenhar、Waardenburg 和 Lenz 综合征等遗传疾病的一部分。新生儿预后取决于先天性无眼症是孤立性畸形，还是与其他缺陷相关，或是综合征的一部分。
一位健康的 43 岁女性，G4 P3，此前有三个健康的孩子，在 28 周妊娠时因常规产科超声检查被转至我们的诊所。二维（2D）超声无法看到胎儿眼球和晶状体，从而诊断为双侧先天性先天性无眼症。未发现其他胎儿畸形。在 30 周妊娠时，使用渲染模式和“反转面部”视图进行了三维（3D）超声检查。使用这种技术，可以通过“裂隙”清楚地看到两个眼球缺失。3D 超声使父母能够更好地了解孩子的问题和可能的产后影响。还进行了胎儿磁共振成像（MRI）检查，以更详细地研究胎儿皮质。该检查显示右侧大脑半球脑沟和脑回发育不良。在 41 周 1 天，她自然分娩，产下一名 3525 克的男婴，阿普加评分为 9 分和 10 分。产后检查证实双侧先天性无眼症。
这是首例使用 3D“反转面部”视图超声和 MRI 对双侧先天性无眼症进行产前诊断的病例报告。
