Prenatal Sonographic Diagnosis of Meckel-Gruber Syndrome: A Case Report

Aim: We report a case in which the prenatal diagnosis of Meckel Gruber (MGS) syndrome was feasible by ultrasonography in the first trimester Case report: A 26 years old woman in her second pregnancy was referred to our perinatology clinic at 13th gestational week with a suspicion of encephalocele. The fetal kidneys were hyperechogenic and enlarged, consistent with bilateral cystic dysplasia. The hands were compatible with polydactyly. According to the sonographic findings, our prenatal sonographic diagnosis was Meckel-Gruber syndrome. Conclusion: MGS is a lethal disorder. In addition, it is a pathology with a high risk of recurrence (25%) due to its autosomal recessively inheritance. Especially in families with anomaly history in previous pregnancies, early ultrasonographic evaluation and genetic counseling to be given to the family afterwards are important in management.