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.

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.

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.

Received: 23 October 2025

Accepted: 04 December 2025

Accepted Manuscript online:
14 January 2026

Article published online:
22 January 2026

© 2026. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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