# Fetal intracranial hemorrhage in a case of 16p microdeletion

## TL;DR

A fetal case of intracranial hemorrhage was linked to a previously unreported 16p11.2 microdeletion, highlighting a new genetic cause for this condition.

## Contribution

The paper reports the first association between a 16p11.2 microdeletion and fetal intracranial hemorrhage.

## Key findings

- A fetal germinal matrix hemorrhage occurred alongside severe ventriculomegaly and a periventricular cyst.
- Array CGH identified a 16p11.2 microdeletion as the underlying genetic cause.
- This microdeletion had not been previously linked to fetal intracranial hemorrhage.

## Abstract

Intracranial hemorrhages are common events in premature infants but in fetal life those incidents are often of ominous prognosis and unknown etiology.

We present the diagnosis, evolution and management of a fetal hemorrhagic accident associated with an inherited maternal microdeletion of the chromosome 16 short arm. Abnormal neurosonography in routine second trimester ultrasound led to follow up. Fetal germinal matrix hemorrhage along with severe asymmetric ventriculomegaly and a secondary periventricular cyst developed in the early third trimester. Array CGH showed microdeletion 16p11.2.

This microdeletion had not been previously associated with fetal intracranial hemorrhage.