The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia.

Abstract

This study aims to assess the diagnostic value of post-mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort. Prenatal ultrasound findings and their association with post-mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally suspected skeletal dysplasia. Prenatal ultrasound performed well in detecting skeletal dysplasias and severe forms of the disease. Additional radiographic imaging was performed post-mortem in 16/27 terminated pregnancies. Post-mortem X-ray and 3D-CT detected several features not seen with US. They were superior to US in identifying spinal and thoracic anomalies and performed better in discovering fractures and deformities of long bones. In addition, disease-specific findings became more accurate with X-ray/CT, especially in the group of true skeletal dysplasias (14/18, 77.8%). Post-mortem X-ray and CT increased phenotypic data and facilitated interpretation of genetic findings. Post-mortem X-ray and CT offer additional information supporting the diagnostic process. Detailed phenotypic data are important in interpreting the results of genetic analyses and in assessing the recurrence risk in future pregnancies. Complementary imaging methods including post-mortem radiography are therefore recommended.