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P19.06: Meckel Gruber syndrome: prenatal diagnosis and autopsy findings

Objectives: The aim of the study was to analyze prenatal sonographic anomalies detected in fetuses with Meckel Gruber syndrome (MGS) and to correlate these anomalies with autopsy findings. Methods: We examined fetal autopsy findings in 13 fetuses with MGS out of 142 second-trimester termination of pregnancy at a tertiary referral center. Results: Thirteen fetuses with MGS were analyzed. Twelve cases had classical clinic triad. One case had only cystic renal dysplasia and polydactyly. Occipital encephalocel was present in twelve cases and in one of them encephalocel was associated with Dandy Walker syndrome. The renal malformations characterized by bilateral, symmetrical enlargement of the kidneys with abdominal distension and lung compression. The renal parenchyma was diffusely cystic throughout the cortex and the medulla. Six cases showed ductal plate malformation of the liver with a variable degree of dilatation of the primitive biliary structures. Additional anomalies included micrognathia (n = 2), hypoplastic left ventricule (n = 1), chorangioma (n = 1), cleft palate (n = 1), and club foot (n = 1). Conclusions: Ultrasonographic findings of MGS allow diagnosis of the most cases. However autopsy may be valuable for confirmation of the diagnosis and to evaluate the recurrence risk in future pregnancies.