Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series

Abstract

Aim: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination. Fetal MRI was accomplished for selected cases. Results: Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks. The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination. Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias. The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them. Conclusions: US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias. The details brought by the fetal MRI are useful, and the exploration is harmless for the fetus and the mother. Certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology.