Pregnancy and Poikiloderma with Neutropenia

Background: Poikiloderma with neutropenia is an autosomal recessive condition characterized by postinflammatory poikiloderma and chronic neutropenia. To date, there is no published literature reporting on the impact of pregnancy on this rare genetic disorder. Case: This case highlights a successful pregnancy outcome in a 26-year-old gravida 1 para 0 female with poikiloderma with neutropenia. Her pregnancy was complicated by thrombocytopenia, low fetal fraction, and high-risk cell-free DNA result. Discussion: The findings of low fetal fraction and high-risk aneuploidy were unexpected given normal neonatal outcome. It is not yet well understood whether these findings are related to the genetic condition itself or use of medications used to manage her condition.