Lethal skeletal dysplasia: screening, diagnosis, treatment

This document explains lethal skeletal dysplasia and the processes following a suspected or confirmed diagnosis of the condition.


Lethal skeletal dysplasia: information for health professionals

This file may not be suitable for users of assistive technology. Request an accessible format.

If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email Please tell us what format you need. It will help us if you say what assistive technology you use.


This publication explains the fetal anomaly lethal skeletal dysplasia.

The leaflet includes:

  • definition of the condition
  • screening and diagnosis procedure
  • prevalence of the condition
  • treatment for the disease
  • likely outcome for the baby
  • prevention processes
  • the referral pathway

The NHS fetal anomaly screening programme (FASP) tests for this condition.

Published 1 July 2009