Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome.

Chen CP, Wu FT, Chern SR, et al. Taiwan J Obstet Gynecol. 2023;62(4):571-576. doi:10.1016/j.tjog.2023.05.002. Open Access: Learn more

Tags: Case Report / Case Series, 2023, Taiwan, RAAs

• “Mosaic trisomy 2 at prenatal diagnosis should alert the possibility of UPD 2 and include a UPD 2 testing. Low-level mosaic trisomy 2 at amniocentesis can be associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.”