Prenatal Diagnosis and Fetal Outcome with Mosaic Genome-Wide Uniparental Disomy.

Introduction: While non-mosaic genome-wide paternal uniparental disomy (patUPD) is consistent with complete hydatidiform mole, the prenatal presentation of mosaic genome-wide patUPD is not well defined. This report adds another case to the small cohort of patients with the rare genetic disorder of mosaic genome-wide patUPD and provides one of the few examples of a prenatal presentation of this disease. We discuss ultrasound findings and prenatal analysis to review predominant genetic and clinical features associated with mosaic genome-wide patUPD.