Last reviewed 01/2018
Diagnosis of osteogenesis imperfecta is made on the basis of clinical features. In mild cases which do not manifest until infancy this can be difficult, and non-accidental injury is an important differential.
Severe variants may be diagnosed by ultrasound prenatally; this should be confirmed radiographically at 20 weeks gestation.
There is no accurate biochemical method of prenatal diagnosis, although in some families where the molecular pathology is well-defined, DNA screening may be possible.