Pediatr Radiol (2015) 45:536–548 DOI 10.1007/s00247-014-3130-x
PICTORIAL ESSAY
Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach Alistair D. Calder & Amaka C. Offiah
Received: 6 March 2014 / Revised: 20 June 2014 / Accepted: 15 July 2014 / Published online: 31 August 2014 # Springer-Verlag Berlin Heidelberg 2014
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 pathologyspecimen 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. Keywords Post-mortem . Foetus . Radiography . Skeletal dysplasia
A. D. Calder (*) Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK e-mail:
[email protected] A. C. Offiah Academic Unit of Child Health, Sheffield Children’s NHS Foundation Trust, Sheffield, UK
Introduction Despite advances in other imaging techniques, post-mortem whole-body foetal radiography continues to play a critical role in the evaluation of skeletal dysplasias and other skeletal malformation syndromes following miscarriage, intra-uterine death or termination of pregnancy. The routine use of antenatal sonography has resulted in the frequent antenatal detection of skeletal malformations. Such findings can be used to guide decisions regarding termination of pregnancy. Antenatal US assessment in skilled hands has been shown to be an accurate predictor of lethality for skeletal dysplasias. Reported accuracy of a lethal dysplasia diagnosis made on antenatal sonography is 96–100% [1–5]. The ratio of femur length to abdominal circumference is a particularly useful sonographic index, with a ratio of
