Short clinical reportNon-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: A case report and literature review

Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise, and maternal hypovolemic shock at 35 weeks of gestation. Only 3 non-mosaic trisomy 16 fetuses, including this case, have been reported to survive into the second or third trimester. Furthermore, this fetus would be the first case of complete trisomy 16 manifesting as asplenia syndrome.

► We reported the first case of non-mosaic trisomy 16 manifesting with asplenia syndrome. ► Parental origin of this case is uniparental trisomy 16 (maternal-origin). ► This is the second case of non-mosaic trisomy 16 that survived into near-term gestation. ► Phenotype and outcomes of non-mosaic trisomy 16 that survived into late gestation.