# Pregnancy and Poikiloderma with Neutropenia

## TL;DR

This paper reports a successful pregnancy in a woman with a rare genetic disorder called poikiloderma with neutropenia, despite complications like low fetal fraction and high-risk DNA results.

## Contribution

The study is the first to report on pregnancy outcomes in individuals with poikiloderma with neutropenia.

## Key findings

- A successful pregnancy was achieved despite complications like thrombocytopenia and high-risk cell-free DNA results.
- Low fetal fraction and high-risk aneuploidy findings did not correlate with abnormal neonatal outcomes.
- The cause of these findings remains unclear and may relate to the genetic condition or its treatment.

## Abstract

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.