To study the additional role of fetal skeletal computed tomography in suspected prenatal bone abnormalities.

Two centers included in a retrospective study all fetuses who benefited from skeletal computed tomography for a suspected constitutional bone disease or focal dysostosis.

A total of 198 patients were included. CT was performed in 112 patients (56%) for an isolated short femur below the third percentile (group A), in 15 patients (8%) for bowed or fractured femur (group B), in 23 patients (12%) for biometric discrepancy between a short femur and increased head circumference (group C) and in 48 patients (24%) for suspected focal dysostosis (group D). CT was interpreted as normal in 126 cases (64%), i.e. 87% in group A, 0% in group B, 65% in group C and 25% in group D. When including only cases with postnatal or postmortem clinical and/or radiological confirmation was available, CT provided additional and/or more accurate information than ultrasound in 20% of cases in group A, 66% in group B, 30% in group C and 72% in group D. Sixty-seven percent of patients in whom CT was interpreted as normal were lost to follow-up.

In isolated short femur, fetal skeletal CT is normal in the great majority of cases although protocolized follow-up of these babies is absolutely compulsory, as a large proportion is lost to follow-up. Fetal skeletal CT can confirm or improve imaging for the suspected diagnosis in suspected focal dysostosis or constitutional bone disease.