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.

The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita

“…The limbs are short, the musculo skeletal phenotype is characterized by hypotonia and waddling gait. [4] In neonatal and infancy the radiographic manifestations are ovoid or pear-shaped vertebrae. Generalized shortness of the long bones with normal modeling is evident.…”

“…A certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology. [4]…”

“…Prenatal ultrasound showed shortening of long bones (arms, legs) < the 5th percentile, flat facies, and delayed ossification of spine and knee. [4] Onset is at birth, but severe short stature may not be obvious until 2 to 3 years. In infancy the vertebral bodies are ovoid or pear-shaped but later platyspondyly with irregular endplates develops.…”

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders

“…The moderately severe SEDC causes short extremities (less than 5th percentile) and delayed ossification of the spine, knee epiphyses, and pubic bones, creating a challenge to prenatal ultrasound diagnosis. 18 Radiographic features of Stickler syndrome type I occur largely in childhood and beyond, however, micrognathia, cleft palate, and polyhydramnios on prenatal ultrasound have been reported in Stickler syndrome by Soulier et al 19 5. In the term neonate, coronal vertebral clefting, occipital defect posterior to the foramen magnum, absent distal femoral epiphyseal ossification, and absent ossification of the pubis are suggestive of type II collagen disorders Coronal clefting is a vertical radiographic lucency within a vertebral body on lateral radiograph.…”

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives

“…MRI has shown only limited utility in prenatal diagnosis of skeletal dysplasias and is not routinely used in HPP diagnosis [ 29 , 41 ]; however, fetal MRI can provide valuable details when targeted US is unable to clarify the diagnosis [ 42 , 43 ]. Fetal “black bone” MRI, compared with standard MRI sequences, may improve visualization of the mineralized skeleton [ 44 ].…”