VP24.06: Unilateral microphthalmia and CNS‐associated anomalies: management and prognosis

Abstract

We present the case of a fetus with a normal nuchal scan at 13 weeks with low risk for chromosomal abnormalities and then diagnosed with microphtalmia at the time of the anomaly scan at 22 weeks with no other cerebral or extracerebral abnormalities except one left ventricular hyperechogenic focus. After counselling about the future visual and esthetic disturbances and the possible association with several fetal syndromes the mother decided for continuation of the pregnancy and follow-up, the first step recommended being amniocentesis for arrayCGH. At 24 weeks we received the result of a normal karyiotype. In the 3rd trimester, at 28+5 weeks of pregnancy scan we noticed more cerebral anomalies: a much smaller left orbit with cataract and obvious facial dysmorphism, a nonlinear cerebral falx at the level of the anterior complex that was displaced towards left, high cerebral lateral ventricles inequality with the larger ventricle being the left (9.8mm), an appearance and suspicion of smooth cerebral surface and polyhydramnios with normal fetal growth and no other abnormalities. The mother declines other genetic tests (WES) and accepted to perform fetal cerebral MRI at 32 weeks that confirmed the US abnormalities described earlier plus gyration abnormalities and severe hypoplasia of the left frontal lobe and left ophthalmic nerve. Following this result she decided for TOP.