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Updated: Jun 15, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Mixoploidy: perinatal diagnosis and pregnancy outcome
Ashwin R Jadhav1, Gary A Dildy, Michael A Belfort
1Division of Maternal Fetal Medicine, New York University Medical Center, New York, NY 11366, USA. Ashwin.Jadhav@nyumc.org
Abstract:
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.
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