Hyperplastic primary vitreous with hemorrhage manifested as a hyperechoic mass in the fetal orbit by prenatal ultrasound in a case of isolated unilateral microphthalmia

Congenital microphthalmia is a rare anomaly of the fetal orbit resulting from developmental defects of the primary optic vesicle. Chromosomal anomalies, genetic defect, infection, and prenatal drug exposure are the most common causes. Congenital microphthalmia is usually associated with other abnormalities, and cases of isolated microphthalmia are rarely reported. Congenital microphthalmia can be diagnosed by prenatal ultrasound by measuring the axial diameter of the eye ball, but the accuracy depends on fetal position and associated anomalies. We report a case of an isolated unilateral microphthalmia which was not diagnosed by prenatal ultrasound, because the only abnormal prenatal ultrasound finding was a small hyperechoic mass lesion in the eye ball and the subsequent scan of the orbits was limited due to fetal prone position. The hyperechoic mass lesion in the eye ball was finally diagnosed as a persistent hyperplastic primary vitreous with hemorrhage by neonatal magnetic resonance image.

Clinical characteristics and perinatal outcome of fetal hydrops

OBJECTIVE: To investigate the clinical characteristics of fetal hydrops and to find the antenatal ultrasound findings predictive of adverse perinatal outcome. METHODS: This is a retrospective study of 42 women with fetal hydrops who delivered in a tertiary-referral center from 2005 to 2013. Fetal hydrops was defined as the presence of fluid collection in > or =2 body cavities: ascites, pleural effusion, pericardial effusion, and skin edema. Predictor variables recorded included: maternal characteristics, gestational age at diagnosis, ultrasound findings, and identifiable causes. Primary outcome variables analyzed were fetal death and neonatal death. RESULTS: The mean gestational age at diagnosis was 29.3+/-5.4 weeks (range, 18 to 39 weeks). The most common identifiable causes were cardiac abnormality (10), followed by syndrome (4), aneuploidy (3), congenital infection (3), twin-to-twin transfusion syndrome (3), non-cardiac anormaly (2), chorioangioma (2), inborn errors of metabolism (1), and immune hydrops by anti-E antibody isoimmunization (1). Thirteen cases had no definite identifiable causes. Three women elected termination of pregnancy. Fetal death occurred in 4 cases. Among the 35 live-born babies, only 16 survived (54.0% neonatal mortality rate). Fetal death and neonatal mortality rate was not significantly associated with Doppler velocimetry indices or location of fluid collection, but increasing numbers of fluid collection site was significantly associated with a higher risk of neonatal death. CONCLUSION: The incidence of fetal hydrops in our retrospective study was 24.4 per 10,000 deliveries and the perinatal mortality rate was 61.9% (26/42). The number of fluid collection sites was the significant antenatal risk factor to predict neonatal death.