Mixoploidy: perinatal diagnosis and pregnancy outcome

Mixoploidy is rare chromosomal disorder characterized by multiple cell lines, usually including triploidy, within tissues. Pregnancy outcome has generally been considered poor with congenital anomalies and developmental delay reported in postnatally diagnosed cases. We report on two cases of abnormal midtrimester ultrasound showing placental abnormalities. Karyotype assessment showed mixoploidy, and both cases had satisfactory pregnancy outcome.