Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: two- and three-dimensional ultrasonographic findings

To present a prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy using two- (2D) and three- dimensional (3D) ultrasonography. The mother was primigravida and 12 years old. She underwent the first 2D obstetric ultrasound examination at 27 weeks, showing bilaterally upper and lower limb micromelia, thumb and hallux in bilateral abduction, bilateral talipes equinovarus; hyperlordosis of the lumbar spine, cervical, lumbar, and sacral scoliosis; cervical hyperkyphosis with the misalignment of cervical vertebrae and straight clavicles. 3D ultrasonography in conventional and HDlive rendering modes confirmed the changes observed in 2D ultrasonography and allowed improved understanding by parents. At birth, the newborn presented transient respiratory distress and neonatal sepsis. At the time of this writing, the child is 31 months old and in follow-up by the pediatrics service. 3D ultrasound allowed the parents to understand the fetal malformations better, and they received adequate counseling.