Prenatal determination of osteogenesis imperfecta is done by -
Osteogenesis imperfecta is the most common disorder caused by mutations in this gene. Mutations that inactivate one of the two copies of the COL1A1 gene cause osteogenesis imperfecta type I. The mutated copy of the gene does not produce any pro-alpha1(I) collagen chains. Because only one copy of the gene is directing the cell to make pro-alpha1(I) chains, cells from people with this disorder make only half of the normal amount of type I collagen, which results in bone fragility and other symptoms. ref : maheswari 9th ed
Acid phosphatase
Alkaline phosphatase
Abnormal Pro- alpha chain
Neutral phosphatase
Bony dysplasia and soft tissue affection