# The Role of Prenatal Neurosonography in Identification of Tubulinopathy—Narrative Review

## TL;DR

This paper reviews how prenatal ultrasound can help detect tubulinopathy, a severe brain disorder, before birth, aiding in early diagnosis and decision-making.

## Contribution

The paper highlights recent advances in prenatal neurosonography for early detection of tubulinopathy.

## Key findings

- Prenatal neurosonography can detect tubulinopathy during the second and early third trimester.
- Specific ultrasonographic patterns can prompt targeted genetic testing for tubulinopathy.
- Early detection supports informed parental decisions and counseling.

## Abstract

Tubulinopathies are severe, non-progressive neurodevelopmental disorders caused by mutations in tubulin genes, leading to profound intellectual disability, drug-resistant epilepsy, motor impairment, and lifelong dependence on care. While historically diagnosed postnatally, advances in prenatal neurosonography now allow for the suspicion of this pathology in utero during routine second and early third-trimester anomaly scans. This narrative review synthesizes key findings from the literature published between 2019 and 2025 regarding prenatal ultrasonographic signs of tubulinopathies. Recognition of specific red-flag patterns should prompt dedicated neurosonography and targeted genetic testing. Early pregnancy detection is crucial for parental counseling and evidence-based decisions regarding pregnancy continuation.