Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach

Pediatr Radiol. 2015 Apr;45(4):536-48. doi: 10.1007/s00247-014-3130-x. Epub 2014 Aug 31.

Abstract

Despite advances in antenatal imaging and genetic techniques, post-delivery post-mortem foetal radiography remains the key investigation in accurate diagnosis of skeletal dysplasia manifesting in the foetus. Foetal radiography is best performed using pathology-specimen radiography equipment and is often carried out in the pathology department without involvement of the radiology unit. However, paediatric radiologists may be asked to interpret post-mortem foetal radiographs when an abnormality is suspected. Many foetal radiographs are carried out before 20 weeks' gestation, and the interpreting radiologist needs to be familiar with the range of normal post-mortem foetal appearances at different gestational ages, as well as the appearances of some of the more commonly presenting skeletal dysplasias, and will benefit from a systematic approach when assessing more challenging cases. In this pictorial essay, we illustrate various normal post-mortem foetal radiographic appearances, give examples of commonly occurring skeletal dysplasias, and describe an approach to establishing more difficult diagnoses.

MeSH terms

  • Autopsy / methods*
  • Bone Diseases, Developmental / diagnostic imaging*
  • Fetal Diseases / diagnostic imaging*
  • Fetus / diagnostic imaging*
  • Humans
  • Prenatal Diagnosis / methods*
  • Radiography
  • Reference Values