How do health care providers diagnose osteogenesis imperfecta (OI)? If OI is moderate or severe, health care providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy. If a parent or sibling has OI, a health care provider can test the DNA of the fetus for the presence of an OI mutation.
Can osteogenesis imperfecta be detected?
A reliable diagnosis of the lethal perinatal type of osteogenesis imperfecta can be made by ultrasound examination during the second trimester, by identification of fractures of the long bones.
How do I know if my baby has osteogenesis imperfecta?
What are the symptoms of osteogenesis imperfecta in a child?Easily broken bones.Bone deformities, such as bowing of the legs.Discoloration of the white of the eye (sclera), may be blue, purple, or gray in color.A barrel-shaped chest.A curved spine.Short stature.A triangle-shaped face.Loose joints.
Is there a blood test for osteogenesis imperfecta?
A blood test may be performed to identify specific genetic mutations associated with osteogenesis imperfecta. Another blood test may also be used to rule out low levels of vitamin D as the cause of your childs fractures.
How do you test for OI?
Laboratory testing for OI may include either biochemical testing or DNA-based sequencing of COL1A1 and COL1A2. Biochemical testing involves studying collagens taken from a small skin biopsy. Changes in type I collagen are an indication of OI.
Why is there no cure for OI?
Because osteogenesis imperfecta (OI) is a genetic condition, it has no cure. For many years, surgical correction of deformities, physiotherapy, and the use of orthotic support and devices to assist mobility (eg, wheelchairs) were the primary means of treatment.
How long is the average lifespan of a person with osteogenesis imperfecta?
Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years).